A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.

ABSTRACT:

Objective

To identify the genetic cause of autosomal dominant spinocerebellar ataxia and retinitis pigmentosa in a large extended pedigree.

Methods

Clinical studies were done at 4 referral centers. Ten individuals in the same extended family participated in at least a portion of the study. Records were obtained from an 11th, deceased, individual. Neurologic and dermatological examinations were performed. Ophthalmologic evaluation including funduscopic examination and in some cases ocular coherence tomography were used to identify the presence of retinal disease. Whole exome sequencing (WES), in conjunction with Sanger sequencing and segregation analysis, was used to identify potential genetic mutation.

Results

Affected individuals reported slowly progressive cerebella

SUBMITTER: Xiao C 

PROVIDER: S-EPMC6812731 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature