Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):220-222. doi: 10.1136/jnnp-2019-321279. Epub 2019 Aug 20.
No abstract available

Keywords: motor neuron disease; neurogenetics; neuroophthalmology.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / complications
  • Amyotrophic Lateral Sclerosis / genetics*
  • Cytoskeletal Proteins / genetics*
  • Exome Sequencing
  • Female
  • Genetic Variation / genetics
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Retinitis Pigmentosa / complications
  • Retinitis Pigmentosa / genetics*
  • Siblings

Substances

  • CFAP410 protein, human
  • Cytoskeletal Proteins