Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis
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چکیده
منابع مشابه
Familial Creutzfeldt-Jakob Disease with V180I Mutation
Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with fa...
متن کاملFamilial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.
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متن کاملFamilial Creutzfeldt-Jakob disease presenting as epilepsia partialis continua.
Creutzfeldt-Jakob disease (CJD) is a rare disorder caused by prions that can affect any part of the central nervous system. It is characterized by a long incubation period, but once symptoms start there is a progressive neurological decline. Clinical features include dementia, ataxia and myoclonus (startle), among others. We report a biopsy-proven case of familial CJD (fCJD) presenting with con...
متن کاملLETTERS TO THE EDITOR Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia
Fatal familial insomnia (FFI) is a prion disease clinically characterised by progressive insomnia and dysautonomia, and associated with an aspartic acid to asparagine mutation at the codon 178 (D178N) of the prion protein gene (PRNP). This mutation is also associated with familial Creutzfeldt-Jakob disease (CJD). These phenotypes have been held to depend on the polymorphism at the codon 129. FF...
متن کاملLETTERS TO THE EDITOR Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia
Fatal familial insomnia (FFI) is a prion disease clinically characterised by progressive insomnia and dysautonomia, and associated with an aspartic acid to asparagine mutation at the codon 178 (D178N) of the prion protein gene (PRNP). This mutation is also associated with familial Creutzfeldt-Jakob disease (CJD). These phenotypes have been held to depend on the polymorphism at the codon 129. FF...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2007
ISSN: 0022-3050
DOI: 10.1136/jnnp.2006.095588