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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Human molecular genetics - 1 Dec 2008

Hakonen Anna H, Goffart Steffi, Marjavaara Sanna, Paetau Anders, Cooper Helen, Mattila Kimmo, Lampinen Milla, Sajantila Antti, Lönnqvist Tuula, Spelbrink Johannes N, Suomalainen Anu

Abstract excerpt

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 of the IOSCA...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 18775955
DOI: 10.1093/hmg/ddn280

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POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.PMID 18775955Read ↗

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