Clinical and genetic characteristics of frontotemporal dementia with amyotrophic lateral sclerosis:one case report and literature review / 中华神经科杂志

Objective To report a case of frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS),review the relevant literature and then summarize the clinical and genetic characteristics of FTD-ALS patients.Methods A FTD-ALS patient admitted to the First Affiliated Hospital,Anhui Medical University in May 2017.After diagnosis,genetic analyses were performed on DNA extracted from peripheral blood of the patient and his first-degree relatives.Chinese FTD-ALS patients reported in detail were reviewed and the clinical and genetic characteristics of the disease were summarized.Results The patient,a 49-year-old man,responded slowly with impaired confrontation naming and impaired single-word comprehension.Magnetic resonance imaging showed temporal lobe atrophy.Besides,the patient gradually developed atrophy in limbs and bulbar muscles as well as spasticity of arms and legs,with positive pathological and primitive reflexes.Electromyography suggested a wide range of neurogenic changes,which were consistent with the FTD-ALS diagnostic criteria.A new heterozygous mutation (c.1335G＞A chr12:64879792 p.W445X) was found in the TBK1 gene.The reference to the American College of Medical Genetics and Genomics guidelines suggested that this mutation type is likely pathogenic,which has not been reported by the Human Gene Mutation Database.There were a total of 21 Chinese FTD-ALS patients (including this case) reported in detail,including 13 males and eight females.The age of onset was (59.01±8.58) (44-73) years.Most of them had typical manifestations of FTD as the first symptom,followed by ALS.Among these patients,seven had genetic data analyses,five of which had positive results.The mutations occurred in TBK1 (two cases),C9onf72 (one case),DCTN1 (one case) and TARDBP (one case)genes,respectively.Most FTD-ALS cases were sporadic (including this case),and only two cases were familial.Conclusions FTD-ALS is a relatively rare disease,mostly sporadic,with a younger onset age,in which behavioral variant FTD is the main manifestation of dementia in the context of ALS,and cognitive impairment is occurred earlier than ALS.In addition to C9orf72 gene,TBK1 gene is an important pathogenic gene of FTD-ALS.Genetic analysis is of great value in the early diagnosis of FTD-ALS.

An Autopsy Confirmed Case of Semantic Variant Primary Progressive Aphasia with Frontotemporal Lobar Degeneration-TDP type C

A 62-year-old man presented with a one-year history of word finding difficulty, impaired single word comprehension and personality changes including aggression, apathy and eating change. Brain MRIs showed severe atrophy in the left anterior temporal lobe. The clinical syndromic diagnosis was semantic variant primary progressive aphasia. He died at age 70 of pneumonia. At autopsy, transactive response DNA-binding protein (TDP) immunoreactive long dystrophic neurites were predominantly found in the cerebral cortices, which were compatible with frontotemporal lobar degeneration-TDP type C pathology.

Frontotemporal Dementia

Frontotemporal dementia (FTD) is a degenerative disease characterized by the selective frontal and temporal lobe atrophy, and progressive deficits in behavior, executive function, or language. The prevalence and incidence of FTD are 15-22/100000 and 2.7-4.1/100000, respectively, in midlife. Hereditary is an important risk factor for FTD. Although there is some controversy regarding the further syndromatic subdivision of the different types of FTD, FTD is clinically classified into behavioral variant of frontotemporal dementia, semantic dementia and progressive nonfluent aphasia. FTD can be misdiagnosed as many psychiatric disorders because of similarity of the prominent behavioral features. Advances in clinical, imaging, and molecular characterization have increased the accuracy of FTD diagnosis, thus developing for the accurate differentiation of these syndromes from psychiatric disorders. We also discuss about therapeutic strategies for symptom management of FTD. Medications such as serotonin reuptake inhibitors, antipsychotics, and other novel treatments have been used in FTD with various rates of success. Further advanced research should be directed at understanding and developing new diagnostic and therapeutic modalities to improve the FTD patients' prognosis and quality of life.

Demencia semántica y demencia tipo Alzheimer ¿Igual rendimiento en tareas semánticas? / Semantic dementia and Alzheimer´s disease: similar performance in semantic tasks?

Introducción: La Demencia Semántica (DS) y la Demencia de tipo Alzheimer (DTA) presentan deterioro semántico; sin embargo, existen pocos estudios comparativos que investiguen las características de éstos déficits en estas patologías. Objetivos: Comparar perfiles de desempeño en tareas semánticas en pacientes con DS y con DTA. Metodología: Se evaluaron 24 pacientes diagnosticados con DS (N=11) o DTA (N= 13) mediante tareas de denominación de dibujos, asociaciones semánticas y fluidez semántica. Resultados: Se hallaron diferencias significativas de rendimiento en las tres tareas semánticas respecto de los controles en ambos grupos de pacientes. Conclusiones: La DS y DTA poseen perfiles de deterioro semántico diferente. El grupo de pacientes con DS presentó mayor compromiso de la memoria semántica especialmente en la tarea de asociaciones semánticas.

Introduction: Semantic Dementia (SD) and Dementia of the Alzheimer´s type (DAT) have deficits in semantic memory. However there are few comparative studies to determine their characteristic semantic impairments. Objectives: Compare performance of semantic tasks in patients with SD and DAT. Methodology: We evaluated 24 patients diagnosed with SD (N = 11) and DAT (N =13). We administered semantic tasks of picture naming, semantic associations and semantic fluency. Results: Significant differences in performance in the three semantic tasks compared to controls in both patient groups were found. Conclusions: SD and DAT profiles have different semantic impairment. The group of patients with SD had higher commitment of semantic memory especially in the task of semantic associations.

Non-literal language and semantic dementia / Linguagem não literal e demência semântica

Semantic dementia is characterized by fluent, phonologically adequate speech with various anomias and semantic paraphasias. Performance on semantic tasks is well documented in these patients, although little is known regarding performance on more complex language tasks, such as those involving non-literal language (interpretation of metaphors and proverbs and recognition of irony). OBJECTIVE: To report the investigation of non-literal language in cases of semantic dementia. METHODS: Two cases of semantic dementia were investigated for the presence of deficits in non-literal language abilities using the screening test for Alzheimer's disease with proverbs, metaphor test and irony test. RESULTS: Both patients were found to have low performance on the tests applied, particularly for interpretation of proverbs. CONCLUSION: This poor performance was attributed largely to the characteristic semantic changes of the disease, but some frontal symptoms inherent to other forms of frontotemporal lobar degeneration were also observed which interfered in the testing, such as negativism, reduced attention span, concretism and perseverations.

A demência semântica é caracterizada por fala fluente e adequada fonologicamente e com diversas anomias e parafasias semânticas. O desempenho em tarefas semânticas é bem documentado nestes pacientes, porém pouco se sabe acerca do desempenho em tarefas linguísticas mais complexas, como naquelas que envolvem linguagem não literal (interpretação de metáforas e provérbios e reconhecimento de ironias). OBJETIVO: Relatar a investigação da linguagem não-literal em casos de demência semântica. MÉTODOS: Dois casos de demência semântica foram investigados para a presença de déficits em habilidades de linguagem não-literal, usando o teste de triagem para a doença de Alzheimer com provérbios, teste de metáforas e teste de ironia.RESULTADOS: Verificou-se que ambas as pacientes apresentaram baixo desempenho nos testes aplicados, principalmente na interpretação de provérbios. CONCLUSÃO: O baixo desempenho foi atribuído especialmente às alterações semânticas características da doença, porém também foram observados sintomas frontais característicos de outras formas de degeneração lobar frontotemporal que interferiram na testagem como negativismo, redução do fôlego atencional, concretismo e perseverações.

Dissociação entre seres vivos e artefatos: investigação de efeito categoria específica no processamento de substantivos na bateria de memória semântica de cambridge / Dissociation between living and nonliving concepts: investigation of category specific effects in semantic processing using the cambridge battery of semantic memory tests

Este trabalho investigou a existência de dissociação entre seres vivos e artefatos em dois estudos: um com adultos típicos e outro com a descrição de dois pacientes que receberam diagnósticos de Demência Semântica (DS) ou de Doença de Alzheimer (DA). Para tanto, foram utilizadas as provas de fluência verbal, nomeação, compreensão e definição da Bateria de Memória Semântica de Cambridge. Entre os adultos típicos, o número de acertos em seres vivos foi maior na nomeação, definição e fluência verbal. Diante do controle das covariáveis sociodemográficas correlacionadas com as tarefas, não se encontraram diferenças significativas. Já a investigação dos dois casos identificou diferentes perfis de distúrbio nas provas. Sugere-se que o paciente com DS teve dupla-dissociação em relação aos controles e à paciente com DA. Os resultados foram discutidos com base em modelos de organização do conhecimento semântico e correlatos neuroanatômicos.

This study investigated dissociations between nouns representing living and nonliving entities in cognitively unimpaired adults and in two patients, one with Semantic Dementia (SD) and another with Alzheimer's disease (AD), using tests from the Cambridge Battery of Semantic Memory Tests. Among controls a higher number of correct responses in naming, definition and verbal fluency was observed in nouns representing living concepts but differences did not reach statistical significance when we controlled for sociodemographic variables correlated to the tasks. The description of the performance of two patients allowed for recognition of different profiles in the tasks. It is suggested that the patient with SD presented a double-dissociation compared to controls and to the patient with AD. Results are discussed in terms of models of semantic memory organization and neuroanatomical correlates.

Primary progressive aphasia: Classification of variants in 100 consecutive Brazilian cases / Afasia Progressiva Primária: classificação das variantes em 100 casos consecutivos brasileiros

ABSTRACT Primary progressive aphasia (PPA) is a neurodegenerative clinical syndrome characterized primarily by progressive language impairment. Recently, consensus diagnostic criteria were published for the diagnosis and classification of variants of PPA. The currently recognized variants are nonfluent/agrammatic (PPA-G), logopenic (PPA-L) and semantic (PPA-S). Objective: To analyze the demographic data and the clinical classification of 100 PPA cases. Methods: Data from 100 PPA patients who were consecutively evaluated between 1999 and 2012 were analyzed. The patients underwent neurological, cognitive and language evaluation. The cases were classified according to the proposed variants, using predominantly the guidelines proposed in the consensus diagnostic criteria from 2011. Results: The sample consisted of 57 women and 43 men, aged at onset 67.2±8.1 years (range of between 53 and 83 years). Thirty-five patients presented PPA-S, 29 PPA-G and 16 PPA-L. It was not possible to classify 20% of the cases into any one of the proposed variants. Conclusion: It was possible to classify 80% of the sample into one of the three PPA variants proposed. Perhaps the consensus classification requires some adjustments to accommodate cases that do not fit into any of the variants and to avoid overlap where cases fit more than one variant. Nonetheless, the established current guidelines are a useful tool to address the classification and diagnosis of PPA and are also of great value in standardizing terminologies to improve consistency across studies from different research centers.

RESUMO A afasia progressiva primária (APP) é uma síndrome clínica neurodegenerativa caracterizada pelo comprometimento predominante e progressivo da linguagem. Recentemente, foi publicado um consenso clínico para o diagnóstico e classificação das variantes da APP. As variantes reconhecidas atualmente são: não-fluente/agramática (APP-G), logopênica (APP-L) e semântica (APP-S). Objetivo: Analisar os dados demográficos e classificar as variantes de uma amostra de 100 casos de APP. Métodos: Foram analisados os achados de 100 pacientes de APP que foram encaminhados consecutivamente para avaliação fonoaudiológica entre 1999 e 2012. Os pacientes foram submetidos à avaliação neurológica, cognitiva e de linguagem. A partir, principalmente, dos critérios elaborados pelo consenso clinico de APP, os casos foram classificados em uma das variantes. Resultados: Cem casos, 43 homens e 57 mulheres, foram avaliados. A idade de início variou entre 53 e 83 anos (x=67.2 (±8.1). Foram identificados 35 casos de APP-S, 29 de APP-G e 16 de APP-L. Vinte casos não se enquadraram em nenhumas das três variantes. Conclusão: Foi possível classificar distúrbio de linguagem em 80% da amostra em uma das três variantes de APP. A recomendação atual estabelecida pelo consenso clínico é uma ferramenta útil para direcionar a classificação e diagnóstico da APP e também é de grande valor para uniformidade das terminologias entre os diferentes centros de pesquisa. Porém, alguns ajustes seriam interessantes para contemplar os casos que não se encaixam em nenhuma das variantes e para evitar a sobreposição de casos que poderiam se encaixar em mais de uma variante.

A tale of two hemispheres: contrasting socioemotional dysfunction in right- versus left-lateralised semantic dementia / Um conto sobre dois hemisférios: contrastando a disfunção socioemocional na demência semântica com atrofia lateralizada à direita versus esquerda

OBJECTIVE: Semantic dementia, a subtype of frontotemporal lobar degeneration, is characterised by cross-modal loss of conceptual knowledge attributable to progressive degeneration of the left anterior temporal lobe. Much less is known regarding the clinical presentation of SD patients with predominantly right-lateralised atrophy. Recent reports emphasise marked socioemotional and behavioural disturbances in such cases. Given the importance of the right anterior temporal lobes in social cognition, we hypothesised that socioemotional functioning would be disproportionately affected in right versus left-lateralised SD cases. METHODS: We assessed well-characterised cases of predominantly right (n=10) and left (n=12) SD and 20 matched healthy controls on tests of emotion processing and interpersonal functioning. RESULTS: Right SD cases showed disproportionate difficulties in the recognition of positive and negative facial emotions, specifically happiness and anger, compared with left SD cases. Deficits in anger recognition persisted in right SD despite covarying for facial and semantic processing. On a contextually rich task of emotion recognition using multimodal videos, no subgroup differences were evident. Finally, empathic concern was rated as significantly lower by caregivers of right versus left SD cases. Overall, the extent of socioemotional disturbance was associated with the degree of behavioural changes in SD. CONCLUSION: Our results reveal considerable overlap in the extent to which socioemotional processes are disrupted in left and right-lateralised cases of SD. Notably, however, right SD cases show disproportionate deficits for recognition of facial emotions and the capacity for empathic concern, supporting a specialised role for the right anterior temporal lobes in mediating these cognitive functions.

OBJETIVO: A demência semântica (DS), um subtipo de degeneração lobar frontotemporal, é caracterizada por perda multimodal do conhecimento conceitual atribuída à degeneração progressiva do região anterior do lobo temporal esquerdo. Sabe-se menos sobre o quadro clínico de pacientes com DS em que a atrofia é localizada predominantemente à direita. Relatos recentes têm enfatizado marcantes distúrbios socioemocionais e comportamentais em tais casos. Dada a importância da região anterior do lobo temporal direito na cognição social, aventamos a hipótese de que o funcionamento socioemocional seria desproporcionalmente afetado nos casos de DS com atrofia lateralizada à direita. MÉTODOS: Foram avaliados os desempenhos de casos bem caracterizados de DS com atrofia do lobo temporal predominantemente à direita (n=10) e à esquerda (n=12) e 20 controles saudáveis em testes de processamento de emoções e funcionamento interpessoal. RESULTADOS: Casos de DS com atrofia predominante à direita apresentaram dificuldades desproporcionadas no reconhecimento de emoções faciais positivas e negativas, especificamente expressões de felicidade e raiva, em comparação com os casos de atrofia à esquerda. Os déficits no reconhecimento de raiva persistiram depois de excluídas as covariações com processamento facial e semântico. Em uma tarefa contextualmente rica de reconhecimento de emoções através de vídeos multimodais, não houve diferenças entre os subgrupos. Por fim, preocupação empática foi classificada por cuidadores como significativamente menor nos casos com atrofia à direita. Em geral, o grau de perturbação socioemocional foi associado com o grau de alterações comportamentais na DS. CONCLUSÃO: Nossos resultados revelam uma considerável sobreposição na medida em que os processos socioemocionais são rompidos tanto em casos com atrofia predominante à direita como à esquerda. Notavelmente, entretanto, os casos com DS com atrofia predominante à direita apresentam déficits desproporcionais no reconhecimento de emoções faciais e na capacidade de preocupação empática, dando suporte à hipótese de um papel especializado das regiões anteriores do lobo temporal direito na mediação dessas funções cognitivas.

Afasia logopénica: presentación de un caso y revisión de la literatura / Logopenic Aphasia: a case report an review of the literature

With the progressive aging of the Chilean population the diagnosis of neurodegenerative disorders is increasingly common, and among them is Primary Progressive Aphasia (PPA), with specific symptoms but late consultation. PPA is a clinical syndrome characterized by the degeneration of language regions in the dominant hemisphere that determines an insidious and progressive loss of language. Two types of PPA were recognized: Progressive non-fluent Aphasia (APnF) and Progressive Semantic Aphasia (DS), and was recently identified as a new type, Logopénica Progressive Aphasia (APL). We describe a case evaluated at the University of Chile Clinical Hospital of a woman of 54 years who have a history of 2-3 years of fluent speech with reduced speed due to the difficulty in finding words, had shortcomings in repetition of complex words, phrases and sentences, presence of phonemic paraphasias and impaired episodic memory. What in the phonological assessment supports a diagnosis of APL. Despite the above, the neurological examination was normal. The APL has been associated with Alzheimer's disease because it presents impaired episodic memory and the neuropathological changes most frequently encountered are amyloid plaques and neurofibrillary tangles. Through this article you may learn more about this disease and who to go if you or some colleague have symptoms to receive some guidance.

Con el progresivo envejecimiento de la población Chilena el diagnóstico de enfermedades neurodegenerativas es cada vez más com ún, y entre ellas está la afasia progresiva primaria (PPA), de síntomas específicos pero consulta tardía. PPA es un síndrome clínico caracterizado por la degeneración de las regiones del lenguaje en el hemisferio dominante que determina una pérdida insidiosa y progresiva del lenguaje. Fueron reconocidos dos tipos de PPA: Afasia Progresiva no fluente (APnF) y Afasia Progresiva Semántica (DS), y recientemente fue identificado un nuevo tipo como, Afasia Progresiva Logopénica (APL). Se describe un caso evaluado en el Hospital Clínico Universidad de Chile de una mujer de 54 años que presenta una historia de 2-3 años de habla fluida, con disminución de la velocidad debido a la dificultad para encontrar palabras, presentaba fallas en repetición de palabras complejas, frases y oraciones, presencia de parafasias fonémicas y problemas de memoria episódica. Lo que en la evaluación fonológica es compatible con un diagnóstico de APL. A pesar de todo lo anterior el examen neurológico fue normal. La APL se ha asociado con la enfermedad de Alzheimer, ya que presenta deterioro de la memoria episódica y los cambios neuropatológicos más frecuentes son las placas amiloides y los ovillos neurofibrilares. A través de este artículo podrán conocer más acerca de esta enfermedad y a quien acudir en caso de presentar síntomas usted o algún conocido para recibir alguna orientación.

A study of dysgraphia of Chinese characters in a patient with semantic dementia / 中华行为医学与脑科学杂志

ObjectiveTo investigate the clinical features of Chinese dysgraphia and then probe into its mechanisms in a patient with semantic dementia(SD).MethodsThe patient with SD finished the writing part of the Aphasia Battery of Chinese (Aphasia Battery of Chinese,ABC) and the Chinese agraphia battery (Chinese agraphia battery,CAB ) in addition to a series of other neuropsychological tests.Results( 1 ) On the Wechsler Adult intelligence scale,the patient performed poorly on information and vocabulary with scores of 6/29 and 8/80,respectively.He spoke out only 11 names totally on the category fluency test within 1 minute,while 25 names or more than were normal.Semantic features test showed he made 37 right answers of 60 questions,with scores of 8/20 on category,7/20 on function and 8/20 on nature features.(2)The writing disorder exhibited Chinese aphasia agraphia with obvious difficulty in forming characters,wrong characters of the same pronunciation or the same form or unrelated errors,and grammatical impairments.Its damage from serious to light occurred in picture writing( 6/40),writing sentences to convey meaning(1/10),dictation(11/40) and automatic writing(35/40).The transcription was relatively preserved (40/40 ). (3)He scored 20 and 19 points on MMSE and MoCA.Executive function was damaged significantly,while recent memory was preserved relatively.ConclusionThe patient with SD shows an impoverished store of general knowledge and poor comprehension of single-word.The nature of SD's dysgraphia presents Chinese aphasia agraphia,undoubtedly due to progressive deterioration in semantic memory.More importantly,its error types and distribution show apparent discrepancy from that of alphabetic script.Presumably because Chinese writing system is logographic in nature and the pathway of comprehension concerning syllable-orthography-morphemes mapping,while alphabetic writing system follows a principle of mapping graphemes on-to phonemes and letters themselves dont stand for any meaning.

Clinical Features and Therapeutic Approaches of Frontotemporal Dementia

Frontotemporal dementia (FTD), formerly called Pick's disease, is a progressive dementia that is associated with focal atrophy of the frontal and/or temporal lobes. FTD has three major clinical subtypes ; 1) a frontal variant of frontotemporal dementia (fvFTD), 2) semantic dementia (SD), and 3) progressive nonfluent aphasia (PNFA). These different variants differ in their clinical symptoms, cognitive deficits, and affected brain regions. The insidious onset of personality changes and behavioral abnormalities is the most prominent feature of fvFTD. Poor insight, loss of personal and social awareness, and blunting of affect are common behavioral changes in fvFTD. The most common presenting complaint in SD involves language, and is often described as a loss of memory for words or a loss of word meaning. Patients with PNFA present with changes in fluency, pronunciation, or word finding difficulty. An accumulating body of evidence suggests that FTD overlaps with three other neurodegenerative diseases: motor neuron disease (MND), corticobasal degeneration (CBD), and progressive supranuclear palsy (PSP). Treatment for FTD consists of behavioral and pharmacological approaches. Medications such as selective serotonin reuptake inhibitors, antipsychotics have used in FTD. Cholinesterase inhibitors do not consistently improve cognitive and behavioral symptoms of FTD. Further research should be directed at developing new therapeutic methods to improve the patients' symptoms.

Un caso de demencia frontotemporal en su variante lingüística fluente / A case of frontotemporal dementia in fluent linguistic variant

La dificultad para encontrar las palabras en una conversación y expresar lo que se piensa, así como la pérdida del conocimiento en la escritura de las palabras y su significado en presencia de un habla fluida; se evidencia en este estudio de caso; en una mujer de 62 años, con estudios en comercio y secretariado bilingüe, quien previamente a sus dificultades, se desempeñó como secretaria de alta gerencia con sobresalientes habilidades lingüísticas y en su escritura tipo palmer. Ha presentado una progresión gradual de sus déficits, evolucionando hacia un perfil de deterioro global cognoscitivo, específicamente de sus habilidades del lenguaje, déficit de memoria explicita verbal y semántica, alteración en el cálculo, disortografía, agrafia y disfunción ejecutiva, con parcial limitación para desempeñarse funcionalmente en las actividades de la vida diaria. Con la presentación de este caso, se encuentra un cuadro clínico inicial de afectación del sistema semántico y de la representación mental de las palabras, siendo congruente con una demencia semántica. Se presenta el papel fundamental de la evaluación neuropsicológica y la elaboración de la historia clínica, para efectuar un diagnóstico clínico diferencial entre las demencias degenerativas primarias como la enfermedad de Alzheimer y las variantes de las demencias frontotemporales.

The difficulty of finding words in a conversation and express what we think, and unconsciousness in the writing of words and their meaning in the presence of fluent speech, is evident in this study case, a woman of 62 years, with studies in business and bilingual secretary, who prior to his difficulties, she served as secretary of senior management with outstanding language skills and writing Palm OS. He has presented a gradual progression of their deficits, evolving towards a profile of global cognitive impairment, specifically their language skills, verbal explicit memory deficit and semantic change in the calculation, dysorthography, agraphia and executive dysfunction, with partial limitation to perform functionally in activities of daily living. By presenting this case, is a clinical initial involvement of the semantic system and the mental representation of words, being consistent with a semantic dementia. We report the role of neuropsychological assessment and the development of clinical history, to conduct a clinical differential diagnosis between primary degenerative dementia's such as Alzheimer's disease and variants of frontotemporal dementia.

¿Pirámides y palmeras o pirámides y faraones?: Adaptación y validación de un test de asociación semántica al español rioplatense / Pyramids and palm trees or pyramids and pharaohs?: Adaptation and valifation of semantic association test to the spanish

La memoria semántica es definida como el sistema que permite almacenar el significado de las palabras, objetos, conceptos y el significado del mundo en general. El test más utilizado para evaluar los déficit semánticos adquiridos es el Test de Pirámides y Palmeras (Howard & Patterson, 1992). Es una prueba de asociación semántica que se administra desde diferentes modalidades (pictórica y verbal) y se encuentra muy condicionada por el medio sociocultural. Los objetivos de este trabajo son: presentar la adaptación y validación del Test de Pirámides y Palmeras al español rioplatense, comparar una versión original del test con una nueva versión abreviada y modificada, denominada Test de Pirámides y Faraones, comparar el rendimiento entre sujetos normales y pacientes y obtener puntajes de corte para el diagnóstico de dificultades semánticas en ambas versiones. El test se administró en forma computarizada a 50 voluntarios (40 controles y 10 pacientes con demencia semántica). De las 66 tríadas adaptadas y construidas se seleccionaron las 20 que mejor discriminaron entre pacientes y controles. La fiabilidad del test original fue de alpha igual a .857 para la modalidad pictórica y alpha igual a .910 para la modalidad verbal. La del nuevo test fue de alpha igual a .917 para la modalidad pictórica y alpha igual a .918 para la modalidad verbal. Se obtuvo así la adaptación y validación del Test de Pirámides y Palmeras, como así también una versión abreviada, el Test de Pirámides y Faraones, que evalúa adecuadamente la memoria semántica en nuestro medio sociolingüístico y se adecua a los requerimientos clínicos actuales.

Semantic memory is a long term memory system proposed by Tulving (2000) that stores objects, words, and general world knowledge's meanings without connection with any particular time or place. Conceptual knowledge is mostly shared across individuals in a given culture, although its precise scope depends on the individual's experience (Hodges & Patterson,1997; Patterson & Hodges, 1995). Semantic memory may be impaired in many neurological disorders. This disruption may be attributed to pathology in the infer-lateral temporal lobes. Patients with semantic dementia have difficulties with objects and words meanings (Budson & Price, 2005). Pyramids and Palm Trees Test is one of the most used measures to assess acquired semantic impairments (Howard & Patterson, 1992). It's a semantic association test and has six different administration modalities: pictorial, verbal, and combined. This test contains 52 triads. The English normative data from the original Pyramids and Palm Trees Test Manual (Howard & Patterson, 1992) was only obtained in13 young adults, and no participant made morethan three errors. This is a socio-cultural influenced test. The aims of this article are to present the Pyramids and Palm Trees Test adaptation and validation to our language (Spanish) and cultural context, to compare the 52 triads from the original version with a new and shorter 20 triads version, to assess differences in performance between controls and patients in both tests, and to get cutoff scores on both versions. A computerized version of the original test (52 triads) plus 14 new triads (66 triads in total) were administered to 50 volunteers (40 controls and 10 semantic dementia patients). Presentation program was used to present the stimulus. Non frequent cultural associations were omitted: (a) windmill, tulip-daffodil, (b) carrot, lamb-donkey, (c) acorns, donkey-pig, and (d) Eskimo-rowing, boat-kayak. Also, others triads were slightly modified: (a) caterpillar, butterfly-dragonfly by caterpillar, butterfly-ant, (b) Eskimo, igloo-house by Indian, carp-house, (c) crook, sheep-mice by dog, rabbit-mice, (d) padlock, bicycle-car by pump, bicycle- car, (e) blackboard, table-desk by blackboard, pen-chalk, (f) eggs, hen-swan by flock, hen-duck, and (g) soldier, church-castle by knight, church-castle. Triads with composed words in Spanish were changed: (a) safety pin (alfiler de gancho), girl-baby by pacifier, girl-baby, (b) safe (caja fuerte),necklace-tie by jacket (chaleco), necklace-tie, and (c) bath, owl-woodpecker (pájaro carpintero) by bath, owl-canary. Of the 66 adapted triads, the 20 that allowed better discrimination between patients and controls were selected. The new and shorter version is called Pyramids and Pharaohs, because the Pyramids and Palm Trees Test triad had low specificity and moderate sensitivity in our sample and wasn´t selected. In the adapted Pyramids and Palm Trees Test the reliability index of the pictorial version was moderately high (α = .857), and high for the verbal modality (α = .910). In the Pyramids and Pharaohs Test the reliability index was high for both versions (pictorial: α = .917; verbal: α = .918). The cutoff score for the original version was 44 for the pictorial modality and 43 for the verbal modality. In the Pyramids and Pharaohs Test the cutoff score was 17 for the pictorial modality and 18 for the verbal one. Regarding the specificity, the adapted Pyramids and Palm Trees Test was high (98.8%) same as the new shorter test. In relation to the sensitivity, the original test was moderate (70%), lower than the Pyramids and Pharaohs Test (85%). Results indicate that the Pyramids and Palm Trees Test can be considered an appropriate adaptation to our social culture. Moreover a new test was designed, Pyramids and Pharaohs, with only 20 triads, adequate for semantics acquired impairments assessment, useful for the research on cognitive processes and current clinical requirements.

Reabilitação na demência semântica: estudo da eficácia da reaquisição lexical em três pacientes / Rehabilitation in semantic dementia: study of the effectiveness of lexicalreacquisition in three patients

Although language rehabilitation in patients with primary progressive aphasia (PPA) is recommended, rehabilitation studies in this clinical syndrome are scarce. Specifically, in relation to semantic dementia (SD), few studies have shown the possibility of lexical relearning. Objective: To analyze the effectiveness of rehabilitation for lexical reacquisition in SD. Methods: Three SD patients were submitted to training for lexical reacquisition based on principles of errorless learning. Comparisons between naming performance of treated items (pre and post-training) and non-treated items of the Boston Naming Test (BNT) were made. Results: All patients improved their performance in naming treated words after intervention. However, decline in performance in naming of non-treated items was observed. Case 1 named zero items at baseline while her performance post-training was 29.4% correct responses without cueing, and 90.7% correct with and without cueing. Case 2 named 6.9% of items correctly at baseline and his performance in post-training was 52.9% without cueing and 87.3%, with and without cueing. Case 3 named zero items at baseline and his performance in post-training was 100% correct responses without cueing. Considering the performance in naming the non-treated items of the BNT, the percentages of correct responses in the first evaluation and in the re-evaluation, respectively were: 16.7% and 8.3% (case 1; 14 month-interval); 26.7% and 11.6% (case 2; 18 month-interval) and 11.6% and 8.3% (case 3; 6 month-interval). Conclusions: The reacquisition of lost vocabulary may be possible in SD despite progressive semantic deterioration.

Apesar de recomendada reabilitação da linguagem na afasia progressiva primária (APP), há poucos estudos sobre reabilitação nesta síndrome. Especificamente, quanto à demência semântica (DS), os poucos estudos têm mostrado possibilidade de reaprendizado lexical. Objetivo: Analisar a eficácia da reabilitação para reaquisição lexical na DS. Métodos: Três pacientes com DS foram submetidos à reabilitação para reaquisição lexical baseada nos princípios do aprendizado sem erro. Comparações entre desempenhos na nomeação de itens treinados (pré e pós-tratamento) e de itens não-treinados do Teste de Nomeação de Boston (TNB) foram realizadas. Resultados: Os pacientes obtiveram melhor desempenho na nomeação das palavras treinadas após intervenção. Por outro lado, houve declínio no desempenho dos itens não-treinados. O caso 1 não nomeou nenhum item na linha de base (pré-tratamento) e seu desempenho após o tratamento foi de 29,4% de acertos sem pistas e 90,7% com e sem pistas. O caso 2 nomeou corretamente 6,9% na linha de base e sua performance, pós-treinamento, foi de 52,9% sem pistas e 87,3%, com e sem pistas. O caso 3 não nomeou nenhum item na linha de base e após o treinamento nomeou 100% dos itens sem pista. Considerando a nomeação dos itens lexicais não-treinados do TNB, as porcentagens de acertos na primeira e segunda avaliações foram respectivamente: 16,7% e 8,3% (caso 1; 14 meses de intervalo); 26,7% e 11,6% (caso 2; 18 meses de intervalo) e 11,6% e 8,3% (caso 3; 6 meses de intervalo). Conclusões: A reaquisição do vocabulário perdido pode ser possível na DS apesar da progressiva deterioração semântica.

Demencia semántica: presentación de dos casos y revisión de la literatura / Semantic dementia: report of two cases

Frontotemporal dementia is a neurodegenerative condition that presents with a number of distinct behavioral phenotypes. One of them is semantic dementia (SD), where exists a profound impairment for semantic knowledge related to atrophy of temporal poles. Pathologically, in most cases positive intraneuronal ubiquitin and tau negative inclusions are observed. SD is characterized by fluent, effortless, grammatical speech which lacks informational content, with limited and repetitive content, as well as semantic paraphasias. Also, patients may present with associative visual agnosia, surface dyslexia or dysgraphia, behavioral alterations. Both episodic and autobiographical memory are close to normality. Two female patients with fluent progressive aphasia are reported; they failed in a simple test of semantic association (to point to one of four objects with lesser relation to others). Autobiographical memory was fair. SD can be wrongly diagnosed as left-sided variant of Alzheimer's disease; absence of episodic amnesia and parietal defects may be useful for clinical diagnosis.

La demencia semántica es una variante de las atrofias lobares frontotemporales que se caracteriza por la degradación del conocimiento semántico, de los conceptos. En ella existe una atrofia predominante de los polos temporales, a veces asimétrica; la patología generalmente muestra neuronas con inclusiones ubiquitina (+) y tau (-). Se expresa como una afasia progresiva fluente, sin disartria ni agramatismo, con anomia y parafasias verbales o semánticas, poco informativa. Pueden existir agnosia visual asociativa y alteraciones conductuales; a veces existen alexia y/o agrafía de superficie. Hay respeto relativo de la memoria episódica y autobiográfica. Se presentan dos mujeres con afasia progresiva fluente, alteraciones conductuales y falla en una tarea semántica (4º excluido). A pesar de estos defectos la memoria autobiográfica y el desempeño en sus actividades cotidianas estaban dentro de lo normal. Se concluye que estos cuadros deben diferenciarse de los casos de enfermedad de Alzheimer de predominio izquierdo; el respeto de la memoria episódica y la falta de compromiso parietal descartarían clínicamente esta última patología.

Frontotemporal Lobar Degeneration

Frontotemporal lobar degeneration (FTLD) is a progressive dementia with prominent neuropsychiatric features, aphasia or both. FTLD predominantly affects the frontal and anterior part of temporal cortex. FTLD is classified into frontotemporal dementia (FTD), progressive nonfluent aphasia (PA), and semantic dementia (SD). FTLD is estimated to account for 20% of cases of degenerative dementia with presenile onset. This disease typically has onset in the mid- or early fifties. FTD is characterized by behavioral change and executive dysfunction, PA features a progressive nonfluent aphasia. SD is characterized by a progressive semantic aphasia and associative agnosia. Structural imaging shows atrophy of the frontal lobe and the anterior portion of the temporal lobe, bilaterally symmetric or asymmetric. Pathologically, FTLD can be classified into tau-positive pathology, tau-negative, ubiquitin positive pathology, dementia lacking distinctive histology. At present, there are no specific pharmacological therapies approved for use in any of the FTLD syndrome.

Temporal Variant of Frontotemporal Dementia: A Case of Semantic Dementia

Semantic dementia is a rare, distinct form of frontotemporal lobar degeneration, characterized by a deficit in semantic memory with relative preservation of attention and executive functions. We report a case of semantic dementia that pre-sented with a 3-year history of progressive word-finding difficulty and prosopagnosia. Brain MRI showed prominent atrophic changes in the left temporal region and neuropsychological tests demonstrated semantic memory deficits.

Neuropsychological and Neuroimaging Findings of Semantic Dementia

BACKGROUND: Semantic dementia (SD) is a temporal variant of frontotemporal lobar degeneration (FTLD), which is characterized by naming difficulty, decreased comprehension of words, prosopagnosia and object visual agnosia. We report clinical features, neuropsychological and neuroimaging findings of 4 patients with SD. METHODS: Of 55 patients diagnosed as having FTLD between Jan 1995 and May 2001 at Samsung Medical Center, four patients fulfilled the diagnostic criteria of SD proposed by consensus on FTLD diagnostic criteria. We investigated their clinical features such as presenting symptoms and abnormal behaviors, neuropsychological and neuroimaging findings. Neuropsychological tests included the Seoul Neuropsychological Screening Battery, the Korean-version of Western Aphasia Battery and Hanja reading and writing. All patients underwent brain MRI and FDG-PET. RESULTS: All of the patients showed naming difficulty as a presenting symptom. Language assessments showed severe naming and compre-hension difficulties with preserved fluency and repetition, which were compatible with transcortical sensory aphasia. Whereas Hangul reading aloud and writing were intact, three patients were impaired at Hanja reading and writing. Other neuropsychological tests were remarkable for prosopagnosia, object visual agnosia and memory loss. Brain MRI showed asymmetric temporal atrophies, mainly left antero-inferior temporal cortices. FDG-PET also showed hypome-tabolism in bilateral anterior temporal lobes, more severe on the left. CONCLUSIONS: Our SD patients had characteristic neuropsychological and neuroimaging findings, which can be differentiated from other neurodegenerative diseases. We also found Hanja alexia and agraphia in SD patients, which has not been reported yet.

Semantic Dementia:A Study for a Chinese Patient with Severe Left Temporal Lobe Atrophy / 中国临床心理学杂志

Objective:To analyze neuropsychological characteristics of a Chinese patient with semantic dementia (SD)。Methods:A patient with SD was selected to finish 11 neuropsychological tests and MRI and XeCT。Results:(1)Selective impairment of semantic memory caused severe anomia, impaired spoken and written single-word comprehension, reduced generation of exemplars on category fluency tests and an impoverished fund of general knowledge; (2)relative sparing of other components of language output and comprehension; normal perceptual skill and non-verbal problem-solving abilities; relatively preserved episodic memory; (3)a reading disorder with pattern of surface dyslexia;(4) radiological investigations (MRI and XeCT) have shown severe left temporal neocortex atrophy.Conclusion:There are similar clinical and neuropsychological characteristics for SD between the Chinese patient and the sample of Western. Selective impairment of semantic memory may bring about by left temporal neocortex atrophy。