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Article

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.

European journal of human genetics : EJHG - 1 Dec 2000

Jonasson J, Juvonen V, Sistonen P, Ignatius J, Johansson D, Björck E J, Wahlström J, Melberg A, Holmgren G, Forsgren L, Holmberg M

Abstract excerpt

Spinocerebellar ataxia type 7 (SCA7) is a neuro-degenerative disorder characterised by progressive cerebellar ataxia and macular degeneration. SCA7 is one of the least common genetically verified autosomal dominant cerebellar ataxias (ADCAs) in the world (4.5 to 11.6%), but in Sweden and Finland SCA7 is the most commonly identified form of ADCA. In an inventory of hereditary ataxias in Scandinavia (Sweden,...

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PMID: 11175279
DOI: 10.1038/sj.ejhg.5200557

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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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