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Article

Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

Journal of human genetics - 1 Jan 2006

Wieczorek Stefan, Arning Larissa, Alheite Ingrid, Epplen Jörg T

Abstract excerpt

Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation. Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associated with ADCA in 52 unrelated Japanese families. As this mutation has so far not been investigated...

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Source

Identifiers

PMID: 16491300
DOI: 10.1007/s10038-006-0372-y

Genes

PLEKHG4

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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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