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| 100 | 1 | _ | |a Schneider, Susanne A |0 P:(DE-HGF)0 |b 0 |e Corresponding author |
| 245 | _ | _ | |a Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature. |
| 260 | _ | _ | |a Berlin |c 2021 |b Springer77118 |
| 264 | _ | 1 | |3 online |2 Crossref |b Springer Science and Business Media LLC |c 2019-11-07 |
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| 520 | _ | _ | |a Monogenic diseases are important models for the study of neurodegenerative diseases, such as Parkinson's disease (PD) and dementia. Notably, for some disorders, homozygosity is associated with a complex metabolic disease, while heterozygosity predisposes to late-onset neurodegeneration. For instance, biallelic glucocerebrosidase gene mutations cause Gaucher's disease, while heterozygous mutations are a common genetic risk factor for late-onset PD. Little is known about similar risks of related diseases, such as Niemann-Pick type C (NPC). Given that both conditions map into related, i.e., lysosomal, pathways, we hypothesize a similar risk of single-NPC gene mutations. Indeed, there is increasing evidence based on clinical observations in humans and animal studies. Here we review the current knowledge of NPC heterozygosity.Family history studies suggest a high proportion of late-onset neurodegenerative diseases in NPC families. We identified 19 cases with heterozygous NPC mutations in the literature who presented with a neurodegenerative disease, including levodopa-responsive PD, atypical parkinsonism (PSP, CBD), dystonia or dementia with a mean age at onset of about 57 years (range 8-87). Consistent splenomegaly and mildly abnormal filipin staining results have also been reported in heterozygous gene mutation carriers. Imaging and pathological data support this notion.This finding has wider implications in so far as NPC-related forms of Parkinsonian syndromes, dementia, motor neuron disease and other neurodegenerative disorders may benefit from NPC-mechanistic therapies, in particular related to lysosomal dysfunction. Further research is warranted to generate systematic data of heterozygous mutation carriers, including longitudinal data. |
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| 650 | _ | 2 | |a Adolescent |2 MeSH |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Aged, 80 and over |2 MeSH |
| 650 | _ | 2 | |a Animals |2 MeSH |
| 650 | _ | 2 | |a Child |2 MeSH |
| 650 | _ | 2 | |a Gaucher Disease |2 MeSH |
| 650 | _ | 2 | |a Glucosylceramidase: genetics |2 MeSH |
| 650 | _ | 2 | |a Heterozygote |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Mutation |2 MeSH |
| 650 | _ | 2 | |a Neurodegenerative Diseases: genetics |2 MeSH |
| 650 | _ | 2 | |a Niemann-Pick Disease, Type C: genetics |2 MeSH |
| 650 | _ | 2 | |a Young Adult |2 MeSH |
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