Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

ABSTRACT: Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largely frames clinical thinking and genetic workup in clinical practice. Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system. Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classification system have now been shown to cause ataxia on the one end of the disease continuum and hereditary spastic paraplegia on the other. Other genes such as GBA2 and KIF1C were almost simultaneously published as b

SUBMITTER: Synofzik M 

PROVIDER: S-EPMC6287914 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature