An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

ABSTRACT:

Aims

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by spasticity in the lower limbs. We provide an overview of HSP with an emphasis on recent developments.

Methods

A PubMed search using the term "hereditary spastic paraplegia" and "hereditary spastic paraparesis" was conducted for a period from January 2012 to January 2015. We discuss and critique the major studies in the field over this 36-month period.

Results

A total of 346 publications were identified, of which 47 were selected for review. We provide an update of the common forms of HSP and include patient videos. We also discuss how next-generation sequencing (NGS) has led to the accelerated discovery of new HSP genes, including B4GALNT1,DDHD1, C19

SUBMITTER: Kumar KR 

PROVIDER: S-EPMC6353461 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature