Open AccessMassive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7
Author(s) -
Heather Trang,
Sabrina Y. Stanley,
Paul S. Thorner,
Hannaneh Faghfoury,
Andreas Schulze,
Cynthia Hawkins,
Christopher E. Pearson,
Grace Yoon
Publication year - 2014
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.2014.1902
Subject(s) - spinocerebellar ataxia , biology , trinucleotide repeat expansion , pathology , ataxia , medicine , genetics , allele , gene , neuroscience
We report the first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as large as (CAG)92-250.
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