Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

ABSTRACT:

Importance

The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients.

Objective

To identify the genetic cause for a novel form of pure autosomal dominant HSP.

Design, setting, and participants

We examined and followed up with a family presenting to a tertiary referral center for evaluation of HSP for a decade until August 2014. Whole-exome sequencing was performed in 4 patients from the same family and was integrated with linkage analysis. Sanger sequencing was used to confirm the presence of the candidate variant in the remaining affected and unaffected members of the family

SUBMITTER: Rinaldi C 

PROVIDER: S-EPMC5612424 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature