Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

ABSTRACT:

Background

Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), have been recently implicated in HSP.

Methods

Whole-exome sequencing was done in a Canada-wide HSP cohort.

Results

Three additional patients with homozygous ATP13A2 mutations were identified, representing 0.7% of all HSP families. Spastic paraplegia was the predominant feature, all patients suffered from psychiatric symptoms, and one patient had developed seizures. Of the identified mutations, c.2126G>C;(p.[Arg709Thr]) is novel, c.2158G>T;(p.[Gly720Trp]) has not been reported in ATP13A2-related diseases, and c.2473_2474insAAdelC;p.[Leu82

SUBMITTER: Estiar MA 

PROVIDER: S-EPMC7057081 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature