title: Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.
abstract: Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. This expands the spectrum of neurologic complications associated with SPG3A and highlights the importance of long-term follow-up and neurological surveillance in this patient population.
authors.affiliation: Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Almundher
authors.initials: A
authors.lastname: Al-Maawali
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Michael
authors.initials: M
authors.lastname: Klingenhaeger
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
mesh_terms: D017668:Age of Onset; D002648:Child; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins