Molecular genetic testing for hereditary ataxia
نویسندگان
چکیده
منابع مشابه
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.
BACKGROUND With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied. OBJECTIVE To evaluate the psychosocial impact of genetic testing for autosomal dominant forms of hereditary ataxia and neuromuscular disorders. Patients Fifty subjects at risk for autosomal dominant forms of spinocerebellar ataxia ...
متن کاملhereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
متن کاملClinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis.
OBJECTIVE To assess the frequency and clinical features of different types of hereditary spinocerebellar ataxia in Hong Kong. DESIGN Cross-sectional study using a questionnaire and clinical examination, with the majority of the information retrospectively collected. SETTING Three regional hospitals, Hong Kong. PARTICIPANTS All patients with spinocerebellar ataxia that was confirmed by mol...
متن کاملTitubation in hereditary ataxia.
"AS THE DISEASE progresses some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea". This is how Gowers in 1899 described the occurrence of titubation in hereditary ataxy in his book on the diseases of the nervous system. But this feature of hereditary ataxia seems to have r...
متن کاملGenes and Genetic Testing in Hereditary Ataxias
Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where ...
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ژورنال
عنوان ژورنال: Neurology: Clinical Practice
سال: 2018
ISSN: 2163-0402,2163-0933
DOI: 10.1212/cpj.0000000000000421