Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

ABSTRACT: Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons leading to progressive lower limb spasticity and weakness. Intracellular membrane trafficking, mitochondrial dysfunction and myelin formation are key functions involved in HSP pathogenesis. Only recently defects in metabolism of complex lipids have been implicated in a number of HSP subtypes. Mutations in the 23 known autosomal recessive HSP genes explain less than half of autosomal recessive HSP cases. To identify novel autosomal recessive HSP disease genes, exome sequencing was performed in 79 index cases with autosomal recessive forms of HSP. Resulting variants were filtered and intersected between families to allow identif

SUBMITTER: Gonzalez M 

PROVIDER: S-EPMC3798837 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature