Ontology highlight
ABSTRACT:
SUBMITTER: Estiar MA
PROVIDER: S-EPMC7057081 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Estiar Mehrdad A MA Leveille Etienne E Spiegelman Dan D Dupre Nicolas N Trempe Jean-François JF Rouleau Guy A GA Gan-Or Ziv Z
Molecular genetics & genomic medicine 20200115 3
<h4>Background</h4>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.<h4>Methods</h4>Whole-exome sequencing was done in a Canada-wide HSP cohort.<h4>Results</h4>Three additional patients with homozygous ATP13A2 mutations were identified, representing 0.7% of all HSP families. Spastic para ...[more]