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1.
Ideggyogy Sz ; 68(1-2): 68-71, 2015 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-25842919

RESUMO

AIMS: Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder characterized by a trinucleotide repeat expansion. The disease mainly occurs amongst the Japanese and is extremely rare in the European population. The characteristic clinical symptoms are cerebellar ataxia, dementia, choreoathetoid movements, epileptic seizures and myoclonus. The aim of this study is to present the first genetically confirmed Hungarian case of DRPLA. CASE REPORT: The middle-aged female patient developed the characteristic clinical symptoms except myoclonus over her late thirties with positive family history. The major finding in the skull magnetic resonance imaging was the atrophy of infratentorial brain structures with the consequential dilation of related cerebrospinal fluid spaces. A detailed neuropsychological examination was also performed and it revealed moderate cognitive dysfunctions, mild depression and anxiety. As underlying conditions, Huntington's disease and common spinocerebellar ataxia forms all came into consideration, but all the result of the respective genetic tests were negative. However, the test for mutation in the ATN1 gene revealed pathological heterozygous CAG repeat expansion. CONCLUSION: This case study serves as the first description of genetically confirmed DRPLA in the Central-Eastern region of Europe, the clinical features of which seems to be very similar to the previously reported cases.


Assuntos
Encéfalo/patologia , Função Executiva , Epilepsias Mioclônicas Progressivas/diagnóstico , Epilepsias Mioclônicas Progressivas/genética , Proteínas do Tecido Nervoso/genética , Expansão das Repetições de Trinucleotídeos , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Heterozigoto , Humanos , Hungria , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Epilepsias Mioclônicas Progressivas/patologia , Epilepsias Mioclônicas Progressivas/psicologia
2.
Psychiatr Hung ; 29(2): 158-80, 2014.
Artigo em Húngaro | MEDLINE | ID: mdl-25041746

RESUMO

The letter fluency task is a widely used neuropsychological instrument to assess language and executive functions. We investigated the Hungarian version of the letter fluency task across lifespan, between 5 and 89 years of age (N=562). In the letter fluency task the participants are asked to generate as many words as possible in 1 minute that began with letter K, T or A. We obtained the next classical scores from the fluency task: number of words, number of perseverations, errors and more complex scores like number of clusters, cluster size, total switches and cluster switches. We found partly different developmental trajectories for these indices. Sex differences in performance were more prominent in younger ages. The analysis of the classical and complex indices of the Hungarian letter fluency task presented in our study can help in the investigation of normal and disrupted executive functions in the case of psychiatric and neurological disorders.


Assuntos
Função Executiva , Idioma , Testes Neuropsicológicos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Análise por Conglomerados , Escolaridade , Feminino , Humanos , Hungria , Masculino , Transtornos Mentais/diagnóstico , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/diagnóstico , Fatores Sexuais , Traduções
3.
Psychiatr Hung ; 29(2): 181-207, 2014.
Artigo em Húngaro | MEDLINE | ID: mdl-25041747

RESUMO

The semantic fluency task is a widely used neuropsychological tool to assess lexico-semantic and executive functions related to fronto-temporal circuits. We investigated the Hungarian version of the semantic fluency task across lifespan, between 5 and 89 years of age (N=562). In the semantic fluency task the participants are asked to generate as many words as possible in 1 minute in a given category (animals, fruits, supermarket products). We analyzed classical scores such as number of words, perseverations and errors. Moreover we evaluated complex indices such as number of clusters, cluster size, total switches and cluster switches. We present the age-related and sex differences in the above mentioned indices. This tool pack could help in a more detailed characterization of cognitive functions in psychiatric and neurological disorders.


Assuntos
Função Executiva , Idioma , Testes Neuropsicológicos , Semântica , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Análise por Conglomerados , Escolaridade , Feminino , Humanos , Hungria , Masculino , Transtornos Mentais/diagnóstico , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/diagnóstico , Fatores Sexuais , Traduções
4.
NeuroRehabilitation ; 35(1): 137-46, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24990020

RESUMO

BACKGROUND: Lightning-related injuries most often involve impairment of the functions of the central and peripheral nervous systems, usually including cognitive dysfunctions. We evaluated the cognitive deficit of a patient who had survived a lightning strike and measured the improvement after her cognitive training. This therapeutic method appears to be a powerful tool in the neurorehabilitation treatment. OBJECTIVE: The aim of this case study was to prove the beneficial effects of cognitive training as part of the neurorehabilitation after a lightning strike. METHODS: Six neuropsychological functions were examined in order to test the cognitive status of the patient before and after the 2-month cognitive training: phonological short-term memory (digit span test and word repetitions test), visuo-spatial short-term memory (Corsi Block Tapping Test), working memory (backward digit span test and listening span test), executive functions (letter and semantic fluencies), language functions (non-word repetition test, Pléh-Palotás-Lörik (PPL) test and sentence repetition test) and episodic memory (Rivermead Behavioral Memory Test and Mini Mental State Examination). We also utilized these tests in aged-matched healthy individuals so as to be able to characterize the domains of the observed improvements more precisely. RESULTS: The patient exhibited a considerable improvement in the backward digit span, semantic fluency, non-word repetition, PPL, sentence repetition and Rivermead Behavioral Memory tests. CONCLUSIONS: The cognitive training played an important role in the neurorehabilitation treatment of this lightning injury patient. It considerably improved her quality of life through the functional recovery.


Assuntos
Terapia Cognitivo-Comportamental/métodos , Lesões Provocadas por Raio/psicologia , Lesões Provocadas por Raio/reabilitação , Sobreviventes/psicologia , Adulto , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Transtornos Cognitivos/reabilitação , Feminino , Humanos , Lesões Provocadas por Raio/diagnóstico
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