Complex phenotype in an Italian family with a novel mutation in SPG3A

J Neurol. 2010 Mar;257(3):328-31. doi: 10.1007/s00415-009-5311-3. Epub 2009 Sep 19.

Abstract

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Atrophy / diagnostic imaging
  • Atrophy / genetics
  • Atrophy / pathology
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellar Diseases / physiopathology
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Frontal Lobe / diagnostic imaging
  • Frontal Lobe / pathology
  • Frontal Lobe / physiopathology
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins
  • Molecular Sequence Data
  • Mutation / genetics*
  • Phenotype
  • Positron-Emission Tomography
  • Sequence Homology, Amino Acid
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / metabolism
  • Spastic Paraplegia, Hereditary / physiopathology*

Substances

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