Primary lateral sclerosis as a phenotypic manifestation of familial ALS

Neurology. 2005 May 24;64(10):1778-9. doi: 10.1212/01.WNL.0000162033.47893.F7.

Abstract

Primary lateral sclerosis (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar spasticity and could be part of the clinical spectrum of ALS. Unlike ALS, which is familial in 5 to 10% of the cases, PLS has been described as a sporadic disorder in adults. The authors report two patients with PLS from unrelated SOD1-negative familial ALS families. These observations provide further evidence that PLS can be linked pathophysiologically to ALS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Brain Stem / pathology
  • Brain Stem / physiopathology
  • Comorbidity
  • DNA Mutational Analysis
  • Disease Progression
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / physiopathology*
  • Motor Neurons / pathology
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Pedigree
  • Spinal Cord / pathology
  • Spinal Cord / physiopathology
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1

Substances

  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1