Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

Amyotroph Lateral Scler. 2010;11(1-2):154-6. doi: 10.3109/17482960802483038.

Abstract

Primary lateral sclerosis (PLS) is considered to be a specific sporadic motor neuron disorder, but some reports have shown familial history of motor neuron disorders that may comprise PLS cases. Here we report a novel pedigree highlighting an intrafamilial occurrence of PLS and amyotrophic lateral sclerosis (ALS) cases. These observations strengthen the hypothesis that PLS may represent an ALS phenotype with a long evolution and strongly suggest the involvement of common genetic factors that can lead to upper and lower motor neuron death.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Electromyography
  • Evoked Potentials, Motor
  • Family Health*
  • Female
  • Humans
  • Middle Aged
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / physiopathology*
  • Pedigree
  • Phenotype