Genetic variability of the gene cluster CALHM1–3 in sporadic Creutzfeldt-Jakob disease
نویسندگان
چکیده
منابع مشابه
Sporadic Creutzfeldt-Jakob disease mimicking variant Creutzfeldt-Jakob disease.
BACKGROUND The determination of the form of prion disease and early diagnosis are important for prognostic, public health, and epidemiologic reasons. OBJECTIVE To describe a patient with sporadic Creutzfeldt-Jakob disease (sCJD) who had a clinical history and initial electroencephalogram and magnetic resonance imaging findings consistent with variant CJD (vCJD). RESULTS Results of a repeate...
متن کاملAutoantibodies in sporadic Creutzfeldt-Jakob disease.
IMPORTANCE The diagnosis of autoimmune and neurodegenerative conditions can be unclear. Treatments such as removing the associated tumor, if present, and immunosuppression can halt or often reverse the progression of autoimmune conditions, but there is no curative treatment for neurodegenerative conditions. The presence of autoantibodies can sometimes be misleading. This report illustrates pote...
متن کاملClassification of sporadic Creutzfeldt-Jakob disease revisited.
The sporadic form of Creutzfeldt-Jakob disease (sCJD) has been classified on the basis of the molecular mass of the protease-resistant scrapie prion protein (PrP(Sc)), which can be type 1 or type 2, and the genotype at the methionine (M)/valine (V) polymorphic codon 129, which can be MM, MV or VV. In one classification proposed by Parchi et al., [Parchi P, Giese A, Capellari S, Brown P, Schulz-...
متن کاملGenetic Creutzfeldt-Jakob disease mimicking variant Creutzfeldt-Jakob disease.
The ‘‘pulvinar sign’’ on MRI brain scan is defined as hyperintensity of the posterior thalamus relative to the signal intensity of the anterior putamen. In the appropriate clinical context, the pulvinar sign and hyperintensity in the dorsomedial thalamic nuclei (the hockey stick sign) are sensitive and specific features of variant Creutzfeldt– Jakob disease (vCJD). Variant CJD is an acquired fo...
متن کاملBiomarkers for sporadic Creutzfeldt–Jakob disease
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare but fatal type of spongiform encephalopathy with unknown cause. Unfortunately, definitive diagnosis of this disease can only be done by examination of postmortem brain tissue. Presumptive diagnosis is done through a combination of clinical manifestations, radiology results, and cerebrospinal fluid (CSF) testing for CSF 14-3-3. Even with these ...
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ژورنال
عنوان ژورنال: Prion
سال: 2012
ISSN: 1933-6896,1933-690X
DOI: 10.4161/pri.20785