Genetic Testing in Spinocerebellar Ataxias
نویسندگان
چکیده
منابع مشابه
Genetic testing for Spinocerebellar Ataxias (SCA) in Parkinsonism
Objective: The study was conducted to find out Spinocerebellar Ataxias (SCA) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College. Materials and methods: A sample of about 5ml blood was collected by venipuncture in EDTA tube with informed consent from the patients following institutional ethics committee approval by genetic study ...
متن کاملGenetic testing in spinocerebellar ataxias: defining a clinical role.
Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention. Currently available DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs. Certain characteristic clinical features and ethnic predilection of some of the SCA subtypes may help prioritize specific ...
متن کاملGenetic and molecular aspects of spinocerebellar ataxias
The group of spinocerebellar ataxias (SCAs) includes more than 20 subgroups based only on genetic research. The "ataxia genes" are autosomal; the "disease-alleles" are dominant, and many of them, but not all, encode a protein with an abnormally long polyglutamine domain. In DNA, this domain can be detected as an elongated CAG repeat region, which is the basis of genetic diagnostics. The polyglu...
متن کاملSpinocerebellar ataxias.
UNLABELLED Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE To carry out a clinical and genetic...
متن کاملAutosomal dominant spinocerebellar ataxias
Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2001
ISSN: 0003-9942
DOI: 10.1001/archneur.58.2.191