141620 20240321221004.0 0367-004x ISSN 10.1007/s00415-019-09621-5 doi pmid:31701332 pmid 0012-1037 ISSN 0340-5354 ISSN 0939-1517 ISSN 1432-1459 ISSN 1619-800X ISSN altmetric:70116721 altmetric 0367-004X ISSN DZNE-2020-07944 English 610 Schneider, Susanne A P:(DE-HGF)0 0 Corresponding author Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature. Berlin 2021 Springer77118 online Crossref Springer Science and Business Media LLC 2019-11-07 article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1709725446_11501 PUB:(DE-HGF) Review Article ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote 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. 899H - Addenda (POF3-899H) G:(DE-HGF)POF3-899H POF3-899H POF III 0 352 - Disease Mechanisms (POF4-352) G:(DE-HGF)POF4-352 POF4-352 POF IV 1 2019-11-07 Crossref https://www.springer.com/tdm 2019-11-07 Crossref https://www.springer.com/tdm Dataset connected to CrossRef, PubMed, Adolescent MeSH Adult MeSH Aged MeSH Aged, 80 and over MeSH Animals MeSH Child MeSH Gaucher Disease MeSH Glucosylceramidase: genetics MeSH Heterozygote MeSH Humans MeSH Middle Aged MeSH Mutation MeSH Neurodegenerative Diseases: genetics MeSH Niemann-Pick Disease, Type C: genetics MeSH Young Adult MeSH Tahirovic, Sabina P:(DE-2719)2442036 1 dzne Hardy, John 2 Strupp, Michael 3 Bremova-Ertl, Tatiana 4 10.1007/s00415-019-09621-5 Springer Science and Business Media LLC 2019-11-07 6 2055-2064 journal-article Crossref Journal of Neurology 268 2019 0340-5354 10.1007/s00415-019-09621-5 PERI:(DE-600)1421299-7 6 2055-2064 Journal of neurology 268 2021 0340-5354 http://pub.dzne.de/record/141620/files/DZNE-2020-07944_Restricted.pdf http://pub.dzne.de/record/141620/files/DZNE-2020-07944_Restricted.pdf?subformat=pdfa pdfa VDB oai:pub.dzne.de:141620 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 1 P:(DE-2719)2442036 DE-HGF Programmungebundene Forschung ohne Programm G:(DE-HGF)POF3-890 G:(DE-HGF)POF3-899H G:(DE-HGF)POF3 G:(DE-HGF)POF3-800 G:(DE-HGF)POF Addenda 0 DE-HGF Gesundheit Neurodegenerative Diseases G:(DE-HGF)POF4-350 G:(DE-HGF)POF4-352 G:(DE-HGF)POF4 G:(DE-HGF)POF4-300 G:(DE-HGF)POF Disease Mechanisms 1 2019 Nationallizenz StatID:(DE-HGF)0420 StatID 2022-11-12 ger DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2022-11-12 DBCoverage StatID:(DE-HGF)0300 StatID Medline 2022-11-12 DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2022-11-12 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2022-11-12 DBCoverage StatID:(DE-HGF)1050 StatID BIOSIS Previews 2022-11-12 DBCoverage StatID:(DE-HGF)1030 StatID Current Contents - Life Sciences 2022-11-12 JCR StatID:(DE-HGF)0100 StatID J NEUROL : 2021 2022-11-12 DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search 2022-11-12 Peer Review StatID:(DE-HGF)0030 StatID ASC 2022-11-12 IF >= 5 StatID:(DE-HGF)9905 StatID J NEUROL : 2021 2022-11-12 I:(DE-2719)999999 Pre 2020 DZNE before 2020 0 I:(DE-2719)1140003 AG Tahirovic Juvenile Neurodegeneration 1 journal VDB I:(DE-2719)999999 I:(DE-2719)1140003 UNRESTRICTED 10.1002/humu.20676 -- missing cx lookup -- KS Hruska 567 - Crossref Hruska KS, LaMarca ME, Scott CR, Sidransky E (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 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