Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review
نویسندگان
چکیده
منابع مشابه
Autosomal recessive cerebellar ataxias
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...
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Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the associated genes has provided insight into the mechanisms that could underlie other forms of genetic or non-genetic ataxias. In many instances, the phenotype is not restricted to cerebellar dysfunction but includes complex multisystemic neurological deficits. The designation of the loci, SCA for spinocer...
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
متن کاملSleep disorders in cerebellar ataxias.
Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these non-motor dysfunctions, sleep disorders have been recognized, although stil...
متن کاملSurvival and severity in dominant cerebellar ataxias
Inherited spinocerebellar ataxias (SCAs) are known to be genetically and clinically heterogeneous. Whether severity and survival are variable, however, is not known. We, therefore, studied survival and severity in 446 cases and 509 relatives with known mutations. Survival was 68 years [95% CI: 65-70] in 223 patients with polyglutamine expansions versus 80 years [73-84] in 23 with other mutation...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2014
ISSN: 2330-1619
DOI: 10.1002/mdc3.12042