scholarly journals Clinical Features of Genetic Creutzfeldt-Jakob Disease with E200K Mutation

2021 ◽  
Vol 39 (3) ◽  
pp. 210-213
Author(s):  
Jiyoung Kim ◽  
Gha-Hyun Lee ◽  
Jae Wook Cho ◽  
Hyun-Woo Kim ◽  
Dae Soo Jung
Keyword(s):  
Clinical Features ◽  
Memory Impairment ◽  
Neurodegenerative Disorder ◽  
E200k Mutation ◽  
Jakob Disease

Although genetic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder, cases of genetic CJD with E200K mutation are being increasingly reported in Korea. However, the clinical features and course of genetic CJD with E200K mutation in Korea remain unclear. We describe the clinical features and course of genetic CJD with E200K mutation in a patient who initially presented with rapid progressive memory impairment and myoclonus.

scholarly journals Severe Episodic Memory Impairment in a Patient With Clinical Features Compatible With Corticobasal Degeneration

2008 ◽  
Vol 4 (2) ◽  
pp. 94
Author(s):  
Sung Kwan Kim ◽  
Kyung Won Park ◽  
Do-Young Kang ◽  
Jae Kwan Cha ◽  
Sang-Ho Kim ◽  
...  
Keyword(s):  
Episodic Memory ◽  
Clinical Features ◽  
Memory Impairment ◽  
Corticobasal Degeneration

scholarly journals The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation

Prion ◽  
2019 ◽  
Vol 13 (1) ◽  
pp. 77-82
Author(s):  
Eva Feketeova ◽  
Dominika Jarcuskova ◽  
Alzbeta Janakova ◽  
Marianna Vitkova ◽  
Jozef Dragasek ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

scholarly journals Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

2020 ◽  
Vol 11 ◽  
Author(s):  
Parham Habibzadeh ◽  
Zahra Tabatabaei ◽  
Soroor Inaloo ◽  
Muhammad Mahdi Nashatizadeh ◽  
Matthis Synofzik ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Deletion Mutation ◽  
Sensorimotor Neuropathy ◽  
Spastic Ataxia ◽  
Phenotypic Spectrum ◽  
Iranian Family ◽  
Biallelic Mutations

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.

Clinical features and diagnosis of dura mater graft-associated Creutzfeldt-Jakob disease

Neurology ◽  
2007 ◽  
Vol 69 (4) ◽  
pp. 360-367 ◽  
Author(s):  
M. Noguchi-Shinohara ◽  
T. Hamaguchi ◽  
T. Kitamoto ◽  
T. Sato ◽  
Y. Nakamura ◽  
...  
Keyword(s):  
Clinical Features ◽  
Dura Mater ◽  
Jakob Disease ◽  
Dura Mater Graft

Clinical features of variant Creutzfeldt-Jakob disease

2002 ◽  
Vol 12 (3) ◽  
pp. 143-150 ◽  
Author(s):  
Colm Henry ◽  
Richard Knight
Keyword(s):  
Clinical Features ◽  
Jakob Disease

Clinical features of Creutzfeldt-Jakob disease with V180I mutation

Neurology ◽  
2004 ◽  
Vol 62 (3) ◽  
pp. 502-505 ◽  
Author(s):  
K. Jin ◽  
Y. Shiga ◽  
S. Shibuya ◽  
K. Chida ◽  
Y. Sato ◽  
...  
Keyword(s):  
Clinical Features ◽  
Jakob Disease

scholarly journals Hashimoto's encephalopathy with clinical features similar to those of Creutzfeldt-Jakob disease

2008 ◽  
Vol 66 (4) ◽  
pp. 903-905 ◽  
Author(s):  
Ana Cláudia Rodrigues de Cerqueira ◽  
José Marcelo Ferreira Bezerra ◽  
Gérson Canedo de Magalhães ◽  
Márcia Rozenthal ◽  
Antônio Egídio Nardi
Keyword(s):  
Clinical Features ◽  
Hashimoto’S Encephalopathy ◽  
Jakob Disease
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