Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

ABSTRACT: Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genetically undiagnosed, suggesting that other genetic causes of HSP are still to be identified. HSP can be inherited in an autosomal-dominant, autosomal-recessive, or X-linked manner. In the current study, we performed whole-exome sequencing to analyze a total of nine affected individuals in three families with autosomal-recessive HSP. Rare homozygous and compound-heterozygous nonsense, missense, frameshift, and splice-site mutations in CAPN1 were identified in all affected individuals, and sequenci

SUBMITTER: Gan-Or Z 

PROVIDER: S-EPMC4863665 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature