Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 15-03-2023

Symbol	SCABG
Location	13q33.1
Name	spinocerebellar ataxia, with neurodegeneration of the cerebellum and the basal ganglia
Other name(s)	spinocerebellar ataxia 27B
Corresponding gene	FGF14
Other symbol(s)	SCA27B
Main clinical features	early-onset tremor, dyskinesia, slowly progressive cerebellar ataxia trembling of both hands, which was exacerbated by emotional stress and physical exercise; mild unsteadiness and ataxia of the upper limbs, especially under unusual circumstances, began at age 15 to 20 years neurologic examination showed dysmetric saccades, disrupted ocular pursuit movements, gaze-evoked nystagmus, cerebellar dysarthria, and a high-frequency, small-amplitude tremor in both hands in most of the patients
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	fibroblast growth factor 14

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift

Remark(s)