Kluenemann, Hans H. ; Nutt, John G. ; Davis, Marie Y. ; Bird, Thomas D.
Alternative Links zum Volltext:DOIVerlag
| Dokumentenart: | Artikel |
|---|
| Titel eines Journals oder einer Zeitschrift: | Journal of the Neurological Sciences |
|---|
| Verlag: | ELSEVIER SCIENCE BV |
|---|
| Ort der Veröffentlichung: | AMSTERDAM |
|---|
| Band: | 335 |
|---|
| Nummer des Zeitschriftenheftes oder des Kapitels: | 1-2 |
|---|
| Seitenbereich: | S. 219-220 |
|---|
| Datum: | 2013 |
|---|
| Institutionen: | Medizin > Lehrstuhl für Psychiatrie und Psychotherapie |
|---|
| Identifikationsnummer: | | Wert | Typ |
|---|
| 10.1016/j.jns.2013.08.033 | DOI |
|
|---|
| Stichwörter / Keywords: | DISEASE; GENE; Parkinson disease; Niemann-Pick C disease; Parkinsonism; Genetics; Lysosomal storage; Gaucher disease |
|---|
| Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin |
|---|
| Status: | Veröffentlicht |
|---|
| Begutachtet: | Ja, diese Version wurde begutachtet |
|---|
| An der Universität Regensburg entstanden: | Ja |
|---|
| Dokumenten-ID: | 61974 |
|---|
Web of Science
Zusammenfassung
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 ...
Zusammenfassung
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. (c) 2013 Elsevier B.V. All rights reserved.
Altmetric