Amyotrophic lateral sclerosis due to a SOD1 mutation and X-linked recessive bulbospinal neuronopathy in a single family

Acta Neurol Belg. 2019 Dec;119(4):641-643. doi: 10.1007/s13760-019-01124-4. Epub 2019 Mar 16.
No abstract available

Keywords: AR; Amyotrophic lateral sclerosis; Gene; Kennedy disease; SOD1.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Amyotrophic Lateral Sclerosis / diagnosis*
  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Bulbo-Spinal Atrophy, X-Linked / diagnosis*
  • China
  • Female
  • Humans
  • Pedigree
  • Superoxide Dismutase-1 / genetics*

Substances

  • SOD1 protein, human
  • Superoxide Dismutase-1

Supplementary concepts

  • Bulbospinal neuronopathy, X-linked recessive