[New insights in the molecular genetics and pathophysiology of hereditary ataxias].
The hereditary ataxias are a heterogeneous group of inherited neurodegenerative disorders characterised by progressive ataxia that results from degeneration of the cerebellum and its afferent and efferent connections. With respect to the pathogenic mechanisms, the hereditary ataxias may be tentatively divided into three groups: (1) The recessive ataxias are induced by the functional impairment of a protein that is essential for the survival of specific neurons while the autosomal dominant ataxias are either caused by (2) mutations of genes coding for ion channels thus resulting in a channelopathy or by (3) a novel deleterious function of a extended polyglutamine sequence within the proteins encoded by the respective genes.
Neurologische Klinik, Universität Tübingen.
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Bürk
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Klockgether
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Dichgans
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D000067696:Ataxin-1; D000067699:Ataxin-3; D000067528:Ataxins; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D033862:Iron-Binding Proteins; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism; D020033:Protein Isoforms; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012097:Repressor Proteins; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D018911:Trinucleotide Repeats / Q000235:genetics; D000096923:Frataxin
D000067696:Ataxin-1; D000067699:Ataxin-3; D000067528:Ataxins; D033862:Iron-Binding Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D020033:Protein Isoforms; D011506:Proteins; D012097:Repressor Proteins; D000096923:Frataxin; C000593749:ATXN1 protein, human; C092341:ATXN3 protein, human
Neue Erkenntnisse zur Molekulargenetik und Pathophysiologie der hereditären Ataxien.