Emerging evidence of coding mutations in the ubiquitin–proteasome system associated with cerebellar ataxias
نویسندگان
چکیده
منابع مشابه
Sleep 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...
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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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The predominant (though not exclusive) reference to degenerative ataxias is due to the fact that the specificity of the affected cell populations should allow anticipation of more or less specific neurochemical alterations. This information could be used to look for therapeutic strategies, given the absence of curative treatments for the majority of ataxic disorders. This review covers only the...
متن کاملMissense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. We screened 366 primarily Caucasian ADCA families, negative for the most common triplet expansions, for point mutations in AFG3L2 using DHPLC. Whole-gene deletions were excluded in 300 of the patients, and dupl...
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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: Human Genome Variation
سال: 2014
ISSN: 2054-345X
DOI: 10.1038/hgv.2014.18