Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

Hans H. Kluenemann; John G. Nutt; Marie Y. Davis; Thomas D. Bird

doi:10.1016/j.jns.2013.08.033

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

Hans H. Kluenemann, John G. Nutt, Marie Y. Davis, Thomas D. Bird

Neurology

Research output: Contribution to journal › Article › peer-review

57 Scopus citations

Abstract

Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon that is now recognized with Gaucher disease and the glucocerebrosidase (GBA) gene. This report should be a stimulus for larger more detailed epidemiological studies.

Original language	English (US)
Pages (from-to)	219-220
Number of pages	2
Journal	Journal of the neurological sciences
Volume	335
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2013.08.033
State	Published - Dec 15 2013

Keywords

Gaucher disease
Genetics
Lysosomal storage
Niemann-Pick C disease
Parkinson disease
Parkinsonism

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1016/j.jns.2013.08.033

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title = "Parkinsonism syndrome in heterozygotes for Niemann-Pick C1",

abstract = "Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon that is now recognized with Gaucher disease and the glucocerebrosidase (GBA) gene. This report should be a stimulus for larger more detailed epidemiological studies.",

keywords = "Gaucher disease, Genetics, Lysosomal storage, Niemann-Pick C disease, Parkinson disease, Parkinsonism",

author = "Kluenemann, {Hans H.} and Nutt, {John G.} and Davis, {Marie Y.} and Bird, {Thomas D.}",

note = "Funding Information: The authors acknowledge Veterans Affairs research and fellowship funds, National Parkinson Foundation, NIH, Michael J. Fox Foundation, and Ceregene.",

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T1 - Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

AU - Kluenemann, Hans H.

AU - Nutt, John G.

AU - Davis, Marie Y.

AU - Bird, Thomas D.

N1 - Funding Information: The authors acknowledge Veterans Affairs research and fellowship funds, National Parkinson Foundation, NIH, Michael J. Fox Foundation, and Ceregene.

PY - 2013/12/15

Y1 - 2013/12/15

N2 - Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon that is now recognized with Gaucher disease and the glucocerebrosidase (GBA) gene. This report should be a stimulus for larger more detailed epidemiological studies.

AB - Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon that is now recognized with Gaucher disease and the glucocerebrosidase (GBA) gene. This report should be a stimulus for larger more detailed epidemiological studies.

KW - Gaucher disease

KW - Genetics

KW - Lysosomal storage

KW - Niemann-Pick C disease

KW - Parkinson disease

KW - Parkinsonism

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JO - Journal of the neurological sciences

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ER -

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

Abstract

Keywords

ASJC Scopus subject areas

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