Open AccessPrevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts
Author(s) -
Sarah L. Gardiner,
Merel W. Boogaard,
Stella Trompet,
Renée de Mutsert,
Frits R. Rosendaal,
Jacobijn Gussekloo,
J. Wouter Jukema,
Raymund A.C. Roos,
N. Ahmad Aziz
Publication year - 2019
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2019.0423
Subject(s) - spinocerebellar ataxia , population , allele , spinal and bulbar muscular atrophy , genetics , disease , biology , pathological , medicine , gene , cancer , prostate cancer , androgen receptor , environmental health
Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.
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