An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
MD Koob, ML Moseley, LJ Schut, KA Benzow, TD Bird… - Nature …, 1999 - nature.com
MD Koob, ML Moseley, LJ Schut, KA Benzow, TD Bird, JW Day, LPW Ranum
Nature genetics, 1999•nature.comMyotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We
now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia
(SCA8). This expansion, located on chromosome 13q21, was isolated directly from the
genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar
in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the
first example of a dominant SCA not caused by a CAG expansion translated as a …
now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia
(SCA8). This expansion, located on chromosome 13q21, was isolated directly from the
genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar
in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the
first example of a dominant SCA not caused by a CAG expansion translated as a …
Abstract
Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.
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