Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations

BMJ Case Rep. 2016 Mar 31:2016:bcr2016214634. doi: 10.1136/bcr-2016-214634.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Muscle Weakness / etiology*
  • Mutation
  • Nervous System Diseases / etiology*
  • Tay-Sachs Disease / diagnostic imaging*
  • Tay-Sachs Disease / genetics
  • beta-Hexosaminidase alpha Chain / genetics

Substances

  • HEXA protein, human
  • beta-Hexosaminidase alpha Chain