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Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia
Author(s) -
Fogel Brent L.,
Lee Ji Yong,
Lane Jessica,
Wahnich Amanda,
Chan Sandy,
Huang Alden,
Osborn Greg E.,
Klein Eric,
Mamah Catherine,
Perlman Susan,
Geschwind Daniel H.,
Coppola Giovanni
Publication year - 2012
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.24064
Subject(s) - ataxia , spinocerebellar ataxia , cerebellar ataxia , population , genetics , compound heterozygosity , medicine , mutation , biology , gene , psychiatry , environmental health
Abstract Background: Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. Methods: Patients with adult‐onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes. Results: We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant. Conclusions: The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society