The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)
نویسندگان
چکیده
منابع مشابه
Creutzfeldt-Jakob disease: A case report
Background: Creutzfeldt-Jakob disease (CJD) as a life-threatening neurodegenerative disorder is not usually diagnosed in early stages of the disease because of a variety in its clinical manifestations. This study aimed to present a middle-aged woman with psychiatric symptoms who ultimately was diagnosed as a CJD case. Case presentation: This 48-year-old woman had progressive symptoms of depres...
متن کاملSporadic 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 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: BMC Medical Genetics
سال: 2011
ISSN: 1471-2350
DOI: 10.1186/1471-2350-12-108