Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2006

Brusse Esther, de Koning Inge, Maat-Kievit Anneke, Oostra Ben A, Heutink Peter, van Swieten John C

Abstract excerpt

Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA-phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. The patients showed a childhood-onset postural tremor and a slowly progressive ataxia evolving from young adulthood....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Chromosomes, Human, Pair 13

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblast Growth Factors

Share to Genetic Neurodegenerative Diseases

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Spinocerebellar Degenerations

Source

Identifiers

PMID: 16211615
DOI: 10.1002/mds.20708

Genes

FGF14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.PMID 16211615Read ↗

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].Semantic proximity Read ↗

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.Semantic proximity Read ↗

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Semantic proximity Read ↗

Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.Semantic proximity Read ↗

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Semantic proximity Read ↗

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.Semantic proximity Read ↗

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.Semantic proximity Read ↗

[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene].Semantic proximity Read ↗

SCA27 caused by a chromosome translocation: further delineation of the phenotype.Semantic proximity Read ↗

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

Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion.Semantic proximity Read ↗

Spinocerebellar ataxia type 14.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.