Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
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چکیده
منابع مشابه
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations.
The majority of pedigrees with autosomal dominant cerebellar ataxia (ADCA) harbour a pathological expansion of a trinucleotide repeat at one of five genetic loci: spinocerebellar ataxia (SCA) 1, 2, 3, 6, and 7. Other loci have been associated with ADCA in a limited number of families, but in a significant number of pedigrees the genetic basis remains uncertain. Mitochondrial DNA (mtDNA) defects...
متن کاملELOVL5 mutations cause spinocerebellar ataxia 38.
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped SCA38 to a 56 Mb region on chromosome 6p in a SCA-affected Italian family by whole-genome linkage analysis. Targeted resequencing identified a single missense mutation (c.689G>T [p.Gly230Val]) in ELOVL5. Mutation screening of 456 i...
متن کاملMolecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals who harbour these mutations carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence of a direct relationship between the level of mutation and mitochondrial respiratory chain function in vitro, it has...
متن کاملInfantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1, leading to an Y508C change in the mitochondrial helicase Twinkle, in its helicase domain. However, no mitochondrial dysfunction has been found in this disease. We studied here the consequences of IOSCA for the central nervous system, as well as the in vitro performance...
متن کاملMutations in KCND3 cause spinocerebellar ataxia type 22.
OBJECTIVE To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. METHODS We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a French family and an Ashkenazi Jewish American family was also mapped to this regio...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.5.e22