T188K-Familial Creutzfeldt–Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD
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چکیده
منابع مشابه
Fatal Familial Insomnia: An Overview
Fatal Familial Insomnia (FFI) is an insidious prion disorder that tends to manifest itself as a patient reaches middle age following a pattern consistent with autosomal dominance. A wide range of symptoms are represented, many related to motor function and autonomic regulation, but degeneration of certain areas of the thalamus is present in every case. Genetically, the condition is transmitted ...
متن کاملFatal familial insomnia: a new Austrian family.
We present clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia. Detailed clinical data are available in five patients and autopsy in four patients. Age at onset of disease ranged between 20 and 60 years, and disease duration between 8 and 20 months. Severe loss of weight was an early symptom in all five patients. Four patients developed insomn...
متن کاملEarly Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay
INTRODUCTION The definitive diagnosis of genetic prion diseases (gPrD) requires pathological confirmation. To date, diagnosis has relied upon the finding of the biomarkers 14-3-3 protein and total tau (t-tau) protein in the cerebrospinal fluid (CSF), but many researchers have reported that these markers are not sufficiently elevated in gPrD, especially in Gerstmann-Sträussler-Scheinker syndrome...
متن کاملA proposal of new diagnostic pathway for fatal familial insomnia
BACKGROUND In absence of a positive family history, the diagnosis of fatal familial insomnia (FFI) might be difficult because of atypical clinical features and low sensitivity of diagnostic tests. FFI patients usually do not fulfil the established classification criteria for Creutzfeldt-Jakob disease (CJD); therefore, a prion disease is not always suspected. OBJECTIVE To propose an update of ...
متن کاملFamilial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.
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ژورنال
عنوان ژورنال: Neuroscience Bulletin
سال: 2019
ISSN: 1673-7067,1995-8218
DOI: 10.1007/s12264-019-00354-z