The University of Southampton
University of Southampton Institutional Repository

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3

Self, J., Mercer, C., Boon, E.M., Murugavel, M., Shawkat, F., Hammans, S., Hodgkins, P., Griffiths, H. and Lotery, A. (2009) Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3 Eye, 23, (12), pp. 2251-2255. (doi:10.1038/eye.2008.389).

Record type: Article

Abstract

Purpose: mutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1Aare responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). Considerable clinical and genetic overlap exists between these 3 allelic disorders. Clinical findings are varied and may include nystagmus.

Objective: to study the clinical phenotype and identify a causative mutation in a family who presented when the youngest member was diagnosed with apparent isolated congenital nystagmus (age 3 months).

Patients and Methods: 8 patients from one family underwent detailed clinical phenotyping comprising; ophthalmic and neurological examination, nystagmology, electrodiagnostic tests and brain imaging. The CACNA1Agene was screened for mutations by direct sequencing in one patient. Co-segregation of the disease and an identified sequence variation was shown using direct sequencing.

Results: phenotyping revealed isolated atypical nystagmus in 4 family members and nystagmus in addition to late onset ataxia in 1 family member. Direct sequencing of the CACNA1Agene identified a novel missense mutation; (c.4110T>G p.Phe1370Leu (NM_000068.3)).

Conclusions: we have shown that a mutation in the intracellular domain between s4 and s5 of repeat 3 can cause atypical nystagmus/cerebellar phenotypes, including isolated nystagmus in an infant. We also illustrate the necessity for detailed examination of relatives in cases of apparent isolated congenital nystagmus

Full text not available from this repository.

More information

Published date: December 2009
Keywords: nystagmus, CACNA1A, ataxia, gene, mutation, infantile
Organisations: Human Genetics, Clinical Neurosciences

Identifiers

Local EPrints ID: 72443
URI: http://eprints.soton.ac.uk/id/eprint/72443
ISSN: 0950-222X
PURE UUID: 38f30a34-4034-496b-8007-1ff11575ff8c
ORCID for J. Self: ORCID iD orcid.org/0000-0002-1030-9963

Catalogue record

Date deposited: 15 Feb 2010
Last modified: 18 Jul 2017 23:54

Export record

Altmetrics

Contributors

Author: J. Self ORCID iD
Author: C. Mercer
Author: E.M. Boon
Author: M. Murugavel
Author: F. Shawkat
Author: S. Hammans
Author: P. Hodgkins
Author: H. Griffiths
Author: A. Lotery

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×