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Neuroscience Bulletin ; (6): 1570-1582, 2021.
Article in English | WPRIM | ID: wpr-922660


Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. We collected and analyzed the data of 218 Chinese gPrD patients identified between Jan 2006 and June 2020. Nineteen different subtypes were identified and gPrDs accounted for 10.9% of all diagnosed PrDs within the same period. Some subtypes of gPrDs showed a degree of geographic association. The age at onset of Chinese gPrDs peaked in the 50-59 year group. Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI) cases usually displayed clinical symptoms earlier than genetic Creutzfeldt-Jakob disease (gCJD) patients with point mutations. A family history was more frequently recalled in P105L GSS and D178N FFI patients than T188K and E200K patients. None of the E196A gCJD patients reported a family history. The gCJD cases with point mutations always developed clinical manifestations typical of sporadic CJD (sCJD). EEG examination was not sensitive for gPrDs. sCJD-associated abnormalities on MRI were found in high proportions of GSS and gCJD patients. CSF 14-3-3 positivity was frequently detected in gCJD patients. Increased CSF tau was found in more than half of FFI and T188K gCJD cases, and an even higher proportion of E196A and E200K gCJD patients. 63.6% of P105L GSS cases showed a positive reaction in cerebrospinal fluid RT-QuIC. GSS and FFI cases had longer durations than most subtypes of gCJD. This is one of the largest studies of gPrDs in East Asians, and the illness profile of Chinese gPrDs is clearly distinct. Extremely high proportions of T188K and E196A occur among Chinese gPrDs; these mutations are rarely reported in Caucasians and Japanese.

14-3-3 Proteins/cerebrospinal fluid , China , Creutzfeldt-Jakob Syndrome/genetics , Humans , Mutation/genetics , Prion Diseases/genetics , Prion Proteins/genetics , Prions/genetics , tau Proteins/cerebrospinal fluid
Rev. bras. neurol ; 56(3): 25-28, jul.-set. 2020. ilus
Article in English | LILACS | ID: biblio-1120513


Creutzfeldt and Jakob's disease (CJD) has its initial milestone in the publication issued 100 years ago that precipitated its better clinical-pathological and etiological understanding. Now, it is established that it belongs to the group of the prion diseases or transmissible spongiform encephalopathies family. CJD is itself divided into several types, the most common being sporadic that is further subdivided according to the anatomoclinical expression, but mainly due to its aetiology regarding prionic protein or genotype.

A doença de Creutzfeldt e Jakob (CJD) tem seu marco inicial na publicação emitida há 100 anos que precipitou seu melhor entendimento clínico- patológico e etiológico. Agora, está estabelecido que pertence ao grupo da família das doenças de príons ou encefalopatias espongiformes transmissíveis. A própria CJD se divide em vários tipos, sendo o mais comum o esporádico que também se subdivide de acordo com a expressão anatomoclínica, mas principalmente devido à sua etiologia em relação à proteína priônica ou genótipo.

Humans , History, 20th Century , Creutzfeldt-Jakob Syndrome/history , Prion Diseases/diagnosis , Creutzfeldt-Jakob Syndrome/genetics , Disease Progression , Prion Proteins
Geriatr., Gerontol. Aging (Impr.) ; 14(1): 71-75, 31-03-2020. ilus
Article in English, Portuguese | LILACS | ID: biblio-1097171


Creutzfeldt-Jakob disease (CJD) is a rare spongiform encephalopathy characterized by a rapid neurodegenerative progress, caused by a misfolded variant of the cellular prion protein (PrP) known as PrPSc. The clinical presentation of sCJD includes a wide range of neurological signs of cortical, subcortical, or cerebellar origin, either isolated or in various combinations. Due to this protean clinical presentation form, sCJD must be distinguished from other dementias. In this case report, we discuss the Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD), a rare variant characterized by early visual symptoms and typical findings in imaging scans. Our patient presented rapidly progressive dementia and a history of visual hallucinations. As for other prion diseases, only symptomatic treatment is available for HvCJD. Thirty years of clinical investigation of patients with prion disease have resulted in little progress in either defining or evaluating potential treatments.

A doença de Creutzfeldt-Jakob (DCJ) é uma encefalopatia rara caracterizada por rápida progressão neurodegenerativa, causada pelo enovelamento incorreto da proteína priônica celular (PrP), conhecido como PrPSc. O quadro clínico da DCJ esporádica inclui um amplo espectro de sinais neurológicos de origens cortical, subcortical ou cerebelar, seja de forma isolada, seja combinada. Por causa da sua apresentação clínica variável, a DCJ esporádica deve ser distinguida de outras demências. Neste relato de caso, discutimos a variante Heidenhain da DCJ (vHDCJ), uma variante rara caracterizada por sintomas visuais precoces e características específicas no exame de imagem. Nossa paciente apresentou demência rapidamente progressiva e histórico de alucinações visuais. Assim como para as demais doenças priônicas, apenas o tratamento sintomático está disponível para a vHDCJ. Trinta anos de investigação clínica de pacientes com doença priônica têm resultado em pouco progresso, seja definindo os potenciais tratamentos, seja avaliando-os.

Humans , Female , Middle Aged , Brain Diseases , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/diagnosis , Prion Diseases/complications , Prion Diseases/diagnosis , Brain Diseases/complications , Brazil , Neurodegenerative Diseases , Prion Proteins
Article in English | WPRIM | ID: wpr-828972


Real-time quaking-induced conversion (RT-QuIC) assay is a newly established PrP -detecting method. The development of RT-QuIC improves the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), showing good sensitivity and specificity in many countries when the method was used in cerebrospinal fluid (CSF) samples. However, in China, the sensitivity and specificity of RT-QuIC has yet to be determined due to the lack of definitive diagnosis samples. Recently, 30 definitive sCJD and 30 non-CJD diagnoses were evaluated by RT-QuIC assay. In the 30 sCJD CSF samples, 29 showed positive results. By contrast, all the non-CJD samples were negative. The sensitivity and specificity of our RT-QuIC assay were 96.67% and 100%, respectively, and are comparable to other published data. Results can provide a fundamental basis for the usage of RT-QuIC assay in CJD surveillance in China.

China , Creutzfeldt-Jakob Syndrome , Diagnosis , Diagnostic Tests, Routine , Methods , Humans , PrPSc Proteins , Cerebrospinal Fluid , Sensitivity and Specificity
Rev. MED ; 27(2): 103-111, jul.-dic. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1115232


Resumen: La enfermedad de Creutzfeldt-Jakob (ECJ) es una patología neurodegenerativa transmisible, producida por una proteína anómala infectante denominada prion. Junto con el kuru, el insomnio familiar fatal y el síndrome de Gerstmann-Stráussler-Scheinker, configura el grupo de las llamadas encefalopatías espongiformes. La ECJ es la forma más común en el ser humano: se calcula que afecta a una persona por cada millón, a nivel mundial, y la mayoría de los pacientes presenta síntomas clásicos de demencia y mioclonías, asociadas a cambios específicos en el electroencefalograma (EEG). Conforme la enfermedad progresa, el cuadro demencial empeora y pueden presentarse síntomas visuales, cerebelosos, piramidales y extrapiramidales. El diagnóstico definitivo se logra demostrando la degeneración espongiforme de las neuronas en histopatología. La ECJ siempre es mortal y no tiene tratamiento específico: cerca del 90% de los pacientes fallece dentro del primer año después del diagnóstico. En este artículo, se reporta el caso de un paciente con ECJ esporádica probable, de acuerdo con los criterios diagnósticos actuales de la OMS y se da a conocer una revisión de la literatura.

Abstract: Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative pathology produced by an infecting abnormal protein called prion. Together with kuru, fatal familial insomnia, and Gerstmann-Stráussler-Scheinker syndrome, it forms the group of so-called spongiform encephalopathies. CJD is the most common form in humans: it is estimated to affect one person per million worldwide and most patients have classic symptoms of dementia and myoclonus, associated with specific changes in the electroencephalogram (EEG). As the disease progresses, the dementia condition worsens and visual, cerebellar, pyramidal, and extrapyramidal symptoms may develop. The final diagnosis is achieved by proving the spongiform degeneration of neurons in the histopathology. CJD is always fatal and has no specific treatment: about 90 % of patients die within the first year of diagnosis. This article reports the case of a patient with probable sporadic CJD, following current who diagnostic criteria, and provides a literature review.

Resumo: A doença de Creutzfeldt-Jakob (DCJ) é uma doença patologia neurodegenerativa transmissível, produzida por uma proteína anormal infectante denominada prion. Juntamente com o kuru, a Insónia familiar fatal e a síndrome de Gerstmann-Stráussler-Scheinker, forma o grupo das chamadas encefalopatias espongiformes. A DCJ é a forma mais comum em humanos: estima-se que ela afete uma em cada um milhão de pessoas em todo o mundo, e a maioria dos pacientes apresenta sintomas clássicos de demência e mioclonia, associados a alterações específicas no eletroencefalograma (EEG). À medida que a doença progride, o quadro de demência piora e podem surgir sintomas visuais, ce-rebelares, piramidais e extrapiramidais. O diagnóstico definitivo é obtido por meio da demonstração da degeneração espongiforme dos neurónios na histopatologia. A dcj é sempre fatal e não possui tratamento específico: cerca de 90% dos pacientes morrem no primeiro ano após o diagnóstico. Neste artigo, é relatado o caso de um paciente com dcj esporádica provável, de acordo com os atuais critérios de diagnóstico da oms, e é apresentada uma revisão da literatura.

Humans , Male , Middle Aged , Creutzfeldt-Jakob Syndrome , Prion Diseases/pathology , Dementia , Myoclonus
Rev. méd. Chile ; 147(9): 1176-1183, set. 2019. tab
Article in Spanish | LILACS | ID: biblio-1058661


The infectious protein or prion (PrPSC) is a transmissible and replicable polypeptide, which arises from an abnormal folding of the PrP protein, by unknown mechanisms and without changes in the primary sequence of its amino acids. Its new spatial disposition arises from the substitution of its alpha helices by beta bands, which increase its structural stability, avoiding its complete proteolysis, resulting in a residual accumulation of prions. These prions induce the misfolding of normal PrP protein, generating their exponential increase, leading to a disturbance of neuronal homeostasis which results in the development of the fatal spongiform encephalopathy of the Creutzfeldt-Jakob disease (CJD). This is the most prevalent human prion disease, and 90% of cases are sporadic, suggesting the endogenous genesis of prions. There are different types of prions, identified based on the genetic variance of codon 129 amino acids of the prion protein. Meteonin (M) and Valine (V)), associated with the result of their enzymatic proteolysis, define prions type 1 (21 kDa) and type 2 (19 kDa). The Classical form of CJD produced by MM1 prion occurs in 70% of the cases. The Cerebellar form originated by the VV2 prion occurs in 15% of cases, the form with Kuru plates, associated with the prion MV2 occurs in 5%, and the Vacuolar, related to the MM2 prion occurs in 4%. CJD is always characterized by behavioral, motor, cognitive, and vision alterations and by findings in magnetic resonance imaging, electroencephalogram and cerebrospinal fluid that define each clinical and neuropathological form.

Humans , Prions , Creutzfeldt-Jakob Syndrome/genetics , Prion Diseases
Prensa méd. argent ; 105(4): 177-184, jun 2019.
Article in English | LILACS, BINACIS | ID: biblio-1026806


Recently, the problem of neurodegenerative diseases in the medical community has become increasingly relevant. This is due to many factors: from insufficiently studied mechanisms of development of some nosological units to low awareness of medical workers. Among neurodegenerative diseases in humans, prions constitute a very specific group, which are infectious protein particles with a unique morphological structure and capable of causing a number of incurable diseases. Despite years of research, no optimal remedy has yet been found to treat them. This review examines the already studied aspects of prion diseases as a class, including small historical background, features of ethiology, pathogenesis, course and outcome of the most common of them, as well as existing research on experimental methods of diagnostics, treatment and prevention of prion infections.

Humans , Epidemiology, Experimental , Gerstmann-Straussler-Scheinker Disease/therapy , Creutzfeldt-Jakob Syndrome/therapy , Prion Diseases/prevention & control , Prion Diseases/therapy , Insomnia, Fatal Familial/therapy , Kuru/therapy
Article in Korean | WPRIM | ID: wpr-766819


Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic prion disease, which is characterized by slowly progressive cerebellar ataxia and the occurrence of cognitive decline in the later stage. P102L is the most common mutation in GSS. We report a patient with a P102L mutation that initially manifested as rapidly progressive dementia without cerebellar symptoms.

Cerebellar Ataxia , Creutzfeldt-Jakob Syndrome , Dementia , Gerstmann-Straussler-Scheinker Disease , Humans , Prion Diseases , Prions
Singapore medical journal ; : 634-641, 2018.
Article in English | WPRIM | ID: wpr-776979


A 68-year-old man presented with a three-week history of rapidly progressive dementia, gait ataxia and myoclonus. Subsequent electroencephalography showed periodic sharp wave complexes, and cerebrospinal fluid assay revealed the presence of a 14-3-3 protein. A probable diagnosis of sporadic Creutzfeldt-Jakob disease was made, which was further supported by magnetic resonance (MR) imaging of the brain showing asymmetric signal abnormality in the cerebral cortices and basal ganglia. The aetiology, clinical features, diagnostic criteria, various MR imaging patterns and radiologic differential diagnosis of sporadic Creutzfeldt-Jakob disease are discussed in this article.

Aged , Brain , Pathology , Cerebral Cortex , Cerebrospinal Fluid , Metabolism , Creutzfeldt-Jakob Syndrome , Diagnostic Imaging , Dementia , Diagnosis, Differential , Diffusion Magnetic Resonance Imaging , Electroencephalography , Humans , Hypoxia-Ischemia, Brain , Diagnostic Imaging , Male , Prion Diseases
Article in Korean | WPRIM | ID: wpr-766715


Familial Creutzfeldt-Jakob Disease (fCJD) is characteristic with older age onset, relatively low occurrence rate, slower progression and lower possibility of developing myoclonus, cerebellar, pyramidal signs and visual disturbance compared with classical sporadic CJD. We report a case of 75-year-old male patient presented with sudden onset of right side weakness with Broca's aphasia who has been diagnosed with fCJD with V180I mutation. This case indicates that fCJD with V180I mutation can have stroke-like initial presentation.

Aged , Aphasia , Creutzfeldt-Jakob Syndrome , Humans , Male , Myoclonus
Yonsei Medical Journal ; : 1197-1204, 2018.
Article in English | WPRIM | ID: wpr-718491


PURPOSE: Obtaining brain tissue is critical to definite diagnosis and to furthering understanding of neurodegenerative diseases. The present authors have maintained the National Neuropathology Reference and Diagnostic Laboratories for Dementia in South Korea since 2016. We have built a nationwide brain bank network and are collecting brain tissues from patients with neurodegenerative diseases. We are aiming to facilitate analyses of clinic-pathological and image-pathological correlations of neurodegenerative disease and to broaden understanding thereof. MATERIALS AND METHODS: We recruited participants through two routes: from memory clinics and the community. As a baseline evaluation, clinical interviews, a neurological examination, laboratory tests, neuropsychological tests, and MRI were undertaken. Some patients also underwent amyloid PET. RESULTS: We recruited 105 participants, 70 from clinics and 35 from the community. Among them, 11 died and were autopsied. The clinical diagnoses of the autopsied patients included four with Alzheimer's disease (AD), two with subcortical vascular dementia, two with non-fluent variant primary progressive aphasia, one with leukoencephalopathy, one with frontotemporal dementia (FTD), and one with Creutzfeldt-Jakob disease (CJD). Five patients underwent amyloid PET: two with AD, one with mixed dementia, one with FTD, and one with CJD. CONCLUSION: The clinical and neuropathological information to be obtained from this cohort in the future will provide a deeper understanding of the neuropathological mechanisms of cognitive impairment in Asia, especially Korea.

Alzheimer Disease , Amyloid , Aphasia, Primary Progressive , Asia , Brain , Cognition Disorders , Cohort Studies , Creutzfeldt-Jakob Syndrome , Dementia , Dementia, Vascular , Diagnosis , Frontotemporal Dementia , Humans , Korea , Leukoencephalopathies , Magnetic Resonance Imaging , Memory , Neurodegenerative Diseases , Neurologic Examination , Neuropathology , Neuropsychological Tests
Rev. Soc. Bras. Clín. Méd ; 15(3): 188-191, 20170000. Ilus
Article in Portuguese | LILACS | ID: biblio-875532


As doenças priônicas são neurodegenerativas e possuem longo período de incubação, progredindo inexoravelmente, assim que os sintomas clínicos aparecem. A doença de Creutzfeldt-Jakob é a mais frequente das doenças priônicas, embora ainda seja rara. O quadro clínico dela é caracterizado por uma demência rapidamente progressiva, sintomas cerebelares e extrapiramidais, e a ressonância magnética, o eletroencefalograma e a análise do líquido cefalorraquidiano possuem achados típicos. Relatamos o caso de um paciente de 81 anos que se apresentou com declínio cognitivo rapidamente progressivo seguido, posteriormente, de mutismo acinético. Proteína 14-3-3 foi detectada no líquido cefalorraquidiano. A ressonância magnética revelou hipersinal do núcleo caudado e putâmen em imagem em difusão, T2 e FLAIR.(AU)

Prion diseases are neurodegenerative, and have long incubation periods, progressing inexorably once clinical symptoms appear. Creutzfeldt-Jakob disease (CJD) is the most frequent of the human prion diseases, although being still rare. The clinical picture of this disease is characterized by a rapidly progressing dementia, cerebellar and extrapyramidal symptoms, and rather specific magnetic resonance (MR), electroencephalography and cerebrospinal fluid (CSF) findings. We report the case of an 81-year-old patient who presented with rapidly progressive cognitive decline followed by akinetic mutism. Protein 14-3-3 in cerebrospinal fluid was detected. Magnetic resonance imaging findings revealed hyperintensity of the caudate and putamen in diffusion-weighted imaging, T2 Weighted sequences and FLAIR images. Patients who have progressive dementia should be evaluated by means of magnetic resonance imaging and cerebrospinal fluid analysis for Creutzfeldt-Jakob.(AU)

Humans , Male , Aged, 80 and over , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/diagnosis , Dementia/complications , Dementia/diagnosis
Rev. méd. Chile ; 145(2): 264-268, feb. 2017. ilus
Article in Spanish | LILACS | ID: biblio-845533


Eyelid retraction, has received limited attention and it has passively been interpreted as the result of an overactive levator palpebrae superioris muscle secondary to midbrain injury. However, eyelid retractions can occur in other neurological diseases, not directly related with the midbrain. We report three patients who developed eyelid retraction. One patient had a bilateral eyelid retraction, related with Creutzfeldt-Jakob disease (CJD). Another patient had a unilateral right eyelid retraction associated with a thalamic-mesencephalic infarct. The third patient had a bilateral pontine infarction on magnetic resonance imaging. In the patient with CJD, eyelid retraction did not subside. Among patients with infarctions, the retraction persisted after focal symptoms had subsided, showing an evolution that was apparently independent of the basic process. The analysis of these patients allows us to conclude that the pathogenesis of eyelid retraction includes supranuclear mechanisms in both the development and maintenance of the phenomenon. Unilateral or bilateral eyelid retraction does not alter the normal function of eyelid, which ever had normal close eye blink. In these reported cases, a hyperactivity of levator palpebrae superioris muscle was clinically ruled out.

Humans , Female , Adult , Middle Aged , Creutzfeldt-Jakob Syndrome/complications , Brain Infarction/complications , Eyelid Diseases/etiology , Muscular Diseases/complications , Oculomotor Muscles , Magnetic Resonance Imaging , Creutzfeldt-Jakob Syndrome/diagnostic imaging , Brain Infarction/diagnostic imaging , Eyelid Diseases/diagnosis
Rev. méd. Chile ; 144(6): 796-806, jun. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-793988


Creutzfeldt-Jakob disease has a higher incidence in Chile than in other countries. The post mortem pathological characterization of brain tissue is necessary to reach a definitive diagnosis. We report a 73 years old man with a history compatible with of a rapidly progressive dementia, in which the first electroencephalographic study showed a pattern consistent with non-convulsive status epilepticus. Besides discarding this diagnosis, it was necessary to rule out other causes of rapidly progressive dementia such as Hashimoto encephalopathy. Finally, the sustained clinical deterioration with no response to anticonvulsants and corticosteroids, the imaging studies, a serial electroencephalographic monitoring study and the detection of 14-3-3 protein in cerebrospinal fluid were the keys to achieve the diagnosis of the disease.

Humans , Male , Aged , Creutzfeldt-Jakob Syndrome/diagnosis , Autopsy , Magnetic Resonance Imaging , Fatal Outcome , 14-3-3 Proteins/cerebrospinal fluid , Electroencephalography