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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Human molecular genetics - 15 Oct 2005

Nikali Kaisu, Suomalainen Anu, Saharinen Juha, Kuokkanen Mikko, Spelbrink Johannes N, Lönnqvist Tuula, Peltonen Leena

Abstract excerpt

Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and spinal cord and sensory axonal neuropathy. We report here the molecular background of this disease based on the positional cloning/candidate approach of the defective gene. Having established the linkage to...

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PMID: 16135556
DOI: 10.1093/hmg/ddi328

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.PMID 16135556Read ↗

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Next‐generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver FailureSemantic proximity Read ↗

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.Semantic proximity Read ↗

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