Article
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.
Annals of neurology - 1 Dec 2002
Klünemann Hans H, Elleder Milan, Kaminski Wolfgang E, Snow Karen, Peyser Janis M, O'Brien John F, Munoz David, Schmitz Gerd, Klein Helmfried E, Pendlebury William W
Abstract excerpt
This is the first description of slowly progressive Niemann-Pick disease type C (NPC) without the typical lysosomal storage in bone marrow and viscera in two descendants of a group of 17th century French-Canadians. The index patient was a married 43-year-old woman with onset of dementia in her thirties, later followed by the development of ataxia and athetoid movements. Her autopsy disclosed frontal lobe atrophy,...
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