Autosomal dominant spinocerebellar ataxias
نویسندگان
چکیده
Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References
منابع مشابه
Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia.
BACKGROUND Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. OBJECTIVE To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. PATI...
متن کاملHereditary spinocerebellar ataxias: number, prevalence, and treatment prospects.
The autosomal dominant spinocerebellar ataxias (ADSCA) are a group of late-onset neurodegenerative disorders. Since the elucidation of the genetic basis of these disorders, the clinical term ADSCA has been replaced by that of spinocerebellar ataxias (SCAs). In most families with SCA, progressive ataxia is not an isolated symptom but occurs in combination with a variety of other neurological fea...
متن کاملRecent advances in hereditary spinocerebellar ataxias.
In recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias. These advances have also allowed insight in (some of) the pathophysiologic pathways assumed to be involved in these diseases. For the clinician, the expanding number of genes and genetic loci in these diseases and the enormous clinical het...
متن کاملMR Imaging in Spinocerebellar Ataxias: A Systematic Review.
BACKGROUND AND PURPOSE Polyglutamine expansion spinocerebellar ataxias are autosomal dominant slowly progressive neurodegenerative diseases with no current treatment. MR imaging is the best-studied surrogate biomarker candidate for polyglutamine expansion spinocerebellar ataxias, though with conflicting results. We aimed to review quantitative central nervous system MR imaging technique finding...
متن کاملAutosomal dominant hereditary ataxia in Sri Lanka
BACKGROUND Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genet...
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