Mental deficiency in three families with SPG4 spastic paraplegia.

Abstract excerpt

Mutations and deletions in the SPG4 gene are responsible for up to 40% of autosomal dominant hereditary spastic paraplegia (HSP). Patients have pyramidal signs in the lower limbs and some present additional features including cognitive impairment such as executive dysfunction or subcortical dementia. We report 13 patients from three SPG4 families, who had spastic paraplegia associated with mental retardation...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenosine Triphosphatases
• Share to Amino Acid Substitution