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Parkinsonism Syndrome in Heterozygotes for Niemann Pick C1
Niemann Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurence 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...
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| Pubblicato in: | J Neurol Sci |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4729292/ https://ncbi.nlm.nih.gov/pubmed/24035292 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2013.08.033 |
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