Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation

J Child Neurol. 2012 Oct;27(10):1348-50. doi: 10.1177/0883073811435245. Epub 2012 Feb 28.

Abstract

Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic paraplegia. This form is mainly associated with an early age of onset and pure phenotype, although recently complicated forms were reported. We describe a patient carrying a new C>T P344S>CT mutation in exon 10 of the spastic paraplegia 3A gene with unusual, complicated, and extremely severe phenotype. At the last neurologic examination performed at 17 years of life, the patient disclosed spastic tetraparesis, sensorimotor axonal neuropathy, cognitive and cranial nerve impairment, mild pes cavus, and distal amyotrophy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Electrophysiology / methods
  • Female
  • GTP-Binding Proteins / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Neuroradiography / methods
  • Phenotype
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology*

Substances

  • Membrane Proteins
  • ATL1 protein, human
  • GTP-Binding Proteins