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Variants in the glucocerebrosidase (GBA<\/jats:styled-content><\/jats:italic>) gene have been associated with the other synucleinopathies, dementia with Lewy bodies, and Parkinson's disease. It is unclear whether glucocerebrosidase variants are associated with MSA<\/jats:styled-content>. The objective of this study was to analyze the frequency of GBA<\/jats:styled-content><\/jats:italic> variants among patients who had autopsy\u2010proven MSA<\/jats:styled-content> at a brain bank in New York City.<\/jats:p><\/jats:sec>Methods<\/jats:title>GBA<\/jats:styled-content><\/jats:italic> was fully sequenced in brain tissues from 17 patients with autopsy\u2010proven MSA<\/jats:styled-content> for whom there was extractable DNA<\/jats:styled-content> at the Columbia University New York Brain Bank from 2002 to 2016. To test whether brains from patients with MSA<\/jats:styled-content> were enriched for GBA<\/jats:styled-content><\/jats:italic> variants, the frequency of GBA<\/jats:styled-content><\/jats:italic> variants in the MSA<\/jats:styled-content> brains was compared with that of variants in all brains from patients with pure Alzheimer's disease (AD<\/jats:styled-content>) at Columbia University for which GBA<\/jats:styled-content><\/jats:italic> genotype was available (n = 82).<\/jats:p><\/jats:sec>Results<\/jats:title>Of 17 MSA<\/jats:styled-content> brains, 4 carried GBA<\/jats:styled-content><\/jats:italic> variants (23.5%), including 1 that was homozygous for N370S and 1 each that carried heterozygous N370S, T369M, and R496H variants. Among the comparator brains with pure AD<\/jats:styled-content>, 3 of 82 (3.7%) carried GBA<\/jats:styled-content><\/jats:italic> variants (P<\/jats:italic> = 0.0127; Fisher exact test), including 1 each with an N370S homozygous variant, an R496H heterozygous variant, and a T369M heterozygous variant.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>A higher frequency of GBA<\/jats:styled-content><\/jats:italic> variants was observed among brains from patients who had pathologically diagnosed MSA<\/jats:styled-content> compared with the frequency of variants in brains from patients who had AD<\/jats:styled-content>. The results indicate a need for further investigation into the role of glucocerebrosidase and lysosomal dysfunction in the etiology of MSA<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.12481","type":"journal-article","created":{"date-parts":[[2017,2,11]],"date-time":"2017-02-11T21:46:46Z","timestamp":1486849606000},"page":"574-581","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Frequency of GBA<\/i> Variants in Autopsy\u2010proven Multiple System Atrophy"],"prefix":"10.1002","volume":"4","author":[{"given":"Miriam","family":"Sklerov","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Un J.","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New 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