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

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

44 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Annals of Neurology
Jahrgang	54
Ausgabenummer	1
Seiten (von - bis)	110-115
Seitenumfang	6
ISSN	0364-5134
DOIs	https://doi.org/10.1002/ana.10608
Publikationsstatus	Veröffentlicht - 01.07.2003

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

Dokumente

10.1002/ana.10608

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@article{3eb36b531a2b41d7b03bf497e8c249ab,

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",

issn = "0364-5134",