Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia
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 …
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 …