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

Eye

Volumn 23, Issue 12, 2009, Pages 2251-2255

  Self, J ^a,b   Mercer, C ^c   Boon, E M J ^d   Murugavel, M ^a   Shawkat, F ^a   Hammans, S ^e   Hodgkins, P ^a   Griffiths, H ^b   Lotery, A ^a,b  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

Ataxia; CACNA1A; Gene; Infantile; Mutation; Nystagmus

Indexed keywords

CALCIUM CHANNEL; NUCLEIC ACID BINDING PROTEIN; PROTEIN CACNA1A; PROTEIN SUBUNIT; SPINOCEREBELLAR ATAXIA TYPE 6 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; CLINICAL ARTICLE; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPIC VARIATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ADULT; AGE OF ONSET; ATAXIA; CALCIUM CHANNELS; CEREBELLUM; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NYSTAGMUS, CONGENITAL; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 72749123541     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2008.389     Document Type: Article

References (13)

1. Casteels I, Harris CM, Shawkat F, Taylor D. Nystagmus in infancy. Br J Ophthalmol 1992; 76: 434-437.
2. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-69.
3. Headache Classification Subcommittee of the International Headache Society. The International Classification of Headache Disorders: 2nd edition. Cephalalgia 2004; 24(Suppl 1): 9-160.
4. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130: 2484-2493.
5. Mantuano E, Veneziano L, Spadaro M, Giunti P, Guida S, Leggio MG et al. Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2. J Med Genet 2004; 41: e82.
6. Mantuano E, Veneziano L, Jodice C, Frontali M. Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. Cytogenet Genome Res 2003; 100: 147-153.
7. Volsen SG, Day NC, McCormack AL, Smith W, Craig PJ, Beattie R et al. The expression of neuronal voltagedependent calcium channels in human cerebellum. Brain Res Mol Brain Res 1995; 34: 271-282.
8. Westenbroek RE, Sakurai T, Elliott EM, Hell JW, Starr TV, Snutch TP et al. Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci 1995; 15: 6403-6418.
9. Rett D. Gaze-evoked nystagmus: a case report and literature review. Optometry 2007; 78: 460-464.
10. Durig JS, Jen JC, Demer JL. Ocular motility in genetically defined autosomal dominant cerebellar ataxia. Am J Ophthalmol 2002; 133: 718-721.
11. Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR et al. Allelic Variation of the FRMD7 Gene in Congenital Idiopathic Nystagmus. Arch Ophthalmol 2007; 125: 1255-1263.
12. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004; 62: 17-22.
13. Thomsen LL, Kirchmann M, Bjornsson A, Stefansson H, Jensen RM, Fasquel AC et al. The genetic spectrum of a population-based sample of familial hemiplegic migraine. Brain 2007; 130: 346-356.