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

59 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

Funding

The authors acknowledge Veterans Affairs research and fellowship funds, National Parkinson Foundation, NIH, Michael J. Fox Foundation, and Ceregene.

Funders	Funder number
Author National Institutes of Health National Institutes of Health National Institutes of Health National Institutes of Health The Bev Hartig Huntington's Disease Foundation National Institutes of Health
U.S. Department of Veterans Affairs	I01CX001006
Michael J. Fox Foundation for Parkinson's Research
National Parkinson Foundation

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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M3 - Article

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AN - SCOPUS:84888138213

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JF - Journal of the neurological sciences

IS - 1-2

ER -

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1

Abstract

Funding

Keywords

ASJC Scopus subject areas

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