Heterozygous Niemann-Pick disease type C presenting with tremor.
Josephs
Keith A
KA
Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA. josephs.keith@mayo.edu
Matsumoto
Joseph Y
JY
Lindor
Noralane M
NM
D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis; D035781:Siblings; D014202:Tremor / Q000209:etiology*
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein