Do CTG expansions at the SCA8 locus cause ataxia?

Ludger Schöls; Ingrid Bauer; Christine Zühlke; Thorsten Schulte; Christina Kölmel; Katrin Bürk; Helge Topka; Peter Bauer; Horst Przuntek; Olaf Riess

doi:10.1002/ana.10608

Do CTG expansions at the SCA8 locus cause ataxia?

Ludger Schöls^*, Ingrid Bauer, Christine Zühlke, Thorsten Schulte, Christina Kölmel, Katrin Bürk, Helge Topka, Peter Bauer, Horst Przuntek, Olaf Riess

^*Corresponding author for this work

Institute of Human Genetics

41 Citations (Scopus)

Abstract

To evaluate the significance of expanded CTG repeats at the SCA8 locus, we analyzed the allele distribution in 1,262 German ataxia patients. We found intermediate and expanded CTG repeats with similar frequencies in ataxia patients with and without established genetic diseases. One family linked to the SCA8 locus showed incomplete penetrance and an association of smaller CTG repeats with more severe disease. Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing.

Original language	English
Journal	Annals of Neurology
Volume	54
Issue number	1
Pages (from-to)	110-115
Number of pages	6
ISSN	0364-5134
DOIs	https://doi.org/10.1002/ana.10608
Publication status	Published - 01.07.2003

Research Areas and Centers

Research Area: Medical Genetics

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10.1002/ana.10608

Cite this

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title = "Do CTG expansions at the SCA8 locus cause ataxia?",

abstract = "To evaluate the significance of expanded CTG repeats at the SCA8 locus, we analyzed the allele distribution in 1,262 German ataxia patients. We found intermediate and expanded CTG repeats with similar frequencies in ataxia patients with and without established genetic diseases. One family linked to the SCA8 locus showed incomplete penetrance and an association of smaller CTG repeats with more severe disease. Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing.",

author = "Ludger Sch{\"o}ls and Ingrid Bauer and Christine Z{\"u}hlke and Thorsten Schulte and Christina K{\"o}lmel and Katrin B{\"u}rk and Helge Topka and Peter Bauer and Horst Przuntek and Olaf Riess",

year = "2003",

month = jul,

day = "1",

doi = "10.1002/ana.10608",

language = "English",

volume = "54",

pages = "110--115",

journal = "Annals of Neurology",