An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Michael D. Koob; Melinda L. Moseley; Lawrence J. Schut; Kellie A. Benzow; Thomas D. Bird; John W. Day; Laura P.W. Ranum

doi:10.1038/7710

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Michael D. Koob, Melinda L. Moseley, Lawrence J. Schut, Kellie A. Benzow, Thomas D. Bird, John W. Day, Laura P.W. Ranum

Research output: Contribution to journal › Article › peer-review

566 Scopus citations

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.

Original language	English (US)
Pages (from-to)	379-384
Number of pages	6
Journal	Nature Genetics
Volume	21
Issue number	4
DOIs	https://doi.org/10.1038/7710
State	Published - Apr 1999

Bibliographical note

Funding Information:
We thank family members for their participation, C. Peterson, H. Lipe and D. Nochlin for help developing the pedigrees and H. Orr for critically reading the manuscript. This work was supported by grants from the National Ataxia Foundation, the Bob Allison Ataxia Research Center, VA research funds and the National Institutes of Health (P01 NS33718 and RO1 NS36282).

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title = "An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)",

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.",

author = "Koob, {Michael D.} and Moseley, {Melinda L.} and Schut, {Lawrence J.} and Benzow, {Kellie A.} and Bird, {Thomas D.} and Day, {John W.} and Ranum, {Laura P.W.}",

note = "Funding Information: We thank family members for their participation, C. Peterson, H. Lipe and D. Nochlin for help developing the pedigrees and H. Orr for critically reading the manuscript. This work was supported by grants from the National Ataxia Foundation, the Bob Allison Ataxia Research Center, VA research funds and the National Institutes of Health (P01 NS33718 and RO1 NS36282).",

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AU - Schut, Lawrence J.

AU - Benzow, Kellie A.

AU - Bird, Thomas D.

AU - Day, John W.

AU - Ranum, Laura P.W.

N1 - Funding Information: We thank family members for their participation, C. Peterson, H. Lipe and D. Nochlin for help developing the pedigrees and H. Orr for critically reading the manuscript. This work was supported by grants from the National Ataxia Foundation, the Bob Allison Ataxia Research Center, VA research funds and the National Institutes of Health (P01 NS33718 and RO1 NS36282).

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AB - 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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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Abstract

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