Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

Sarah Wiethoff; Emer O'Connor; Nourelhoda A Haridy; Suran Nethisinghe; Nicholas Wood; Paola Giunti; Conceição Bettencourt; Henry Houlden

doi:10.1136/jnnp-2017-317253

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1226-1227. doi: 10.1136/jnnp-2017-317253. Epub 2018 Jan 24.

Authors

Sarah Wiethoff^{1

2}, Emer O'Connor¹, Nourelhoda A Haridy^{1

3}, Suran Nethisinghe¹, Nicholas Wood¹, Paola Giunti¹, Conceição Bettencourt^#^{1

4}, Henry Houlden^#¹

Affiliations

¹ Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
² Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany.
³ Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
⁴ Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

^# Contributed equally.

No abstract available

Keywords: Spinocerebellar ataxia type 6; disease modifying factors; polyglutamine diseases; repeat interruptions; trinucleotide repeat expansions.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Calcium Channels / genetics*
Databases, Factual
Disease Progression
Humans
Spinocerebellar Ataxias / genetics*
Trinucleotide Repeat Expansion*

Substances

CACNA1A protein, human
Calcium Channels

Publication types

MeSH terms

Substances

Grants and funding