Heterozygous Niemann-Pick disease type C presenting with tremor

Neurology. 2004 Dec 14;63(11):2189-90. doi: 10.1212/01.wnl.0000145710.25588.2f.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Carrier Proteins / genetics*
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Heterozygote
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Glycoproteins / genetics*
  • Niemann-Pick C1 Protein
  • Niemann-Pick Diseases / complications
  • Niemann-Pick Diseases / diagnosis*
  • Niemann-Pick Diseases / genetics
  • Parkinson Disease / diagnosis
  • Siblings
  • Tremor / etiology*

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein