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Article

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.

Brain & development - 1 Mar 2012

Shimojima Keiko, Okumura Akihisa, Natsume Jun, Aiba Kaori, Kurahashi Hirokazu, Kubota Tetsuo, Yokochi Kenji, Yamamoto Toshiyuki

Abstract excerpt

Many types of spinocerebellar ataxias (SCAs) manifest as progressive disorders with cerebellar involvement. SCA type 27 (SCA27) is a rare type of SCA caused by mutations in the fibroblast growth factor 14 gene (FGF14). FGF14 disruption caused by a de novo reciprocal chromosomal translocation between chromosomes 13 and 21 was identified in a patient with the phenotype of paroxysmal non-kinesigenic dyskinesia...

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Source

Identifiers

PMID: 21600715
DOI: 10.1016/j.braindev.2011.04.014

Genes

PNKD
FGF14

Provenance

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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