Episodic ataxia type 2: Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

Journal of Neurology

Volumn 249, Issue 11, 2002, Pages 1515-1519

  Van den Maagdenberg, A M J M ^a   Kors, E E ^a   Brunt, E R ^b   Van Paesschen, W ^c   Pascual, J ^d   Ravine, D ^e   Keeling, S ^e   Vanmolkot, K R J ^a   Vermeulen, F L M G ^a   Terwindt, G M ^a   Haan, J ^a   Frants, R R ^a   Ferrari, M D ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^e UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

CACNA1A; Calcium channel; EA 2; Episodic ataxia type 2; Mutation analysis

Indexed keywords

ACETAZOLAMIDE; PROTEIN;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; BRAIN SCINTISCANNING; CASE REPORT; CEREBELLUM ATROPHY; CHROMOSOME 19P; DISEASE CLASSIFICATION; DRUG WITHDRAWAL; EPIDEMIC; EXON; EYE MOVEMENT; FAMILIAL DISEASE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GAIT; GENE MUTATION; GENETIC STRAIN; HEADACHE; HUMAN; LONG TERM CARE; LUNG SMALL CELL CANCER; MALE; MENTAL DEFICIENCY; MIGRAINE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; STOP CODON; TREATMENT OUTCOME; VERTIGO; VOMITING;

ADULT; AMINO ACID SEQUENCE; CALCIUM CHANNELS; CALCIUM CHANNELS, P-TYPE; CEREBELLUM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HISTIDINE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 18744388271     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-002-0860-8     Document Type: Article

References (21)

1. Baloh RW, Jen JC (2000) Episodic ataxia type 2 and spinocerebellar ataxia type 6. Klockgether, T and Dekker, M Handbook of Ataxia Disorders. New York. pp 0.447-68
2. Brandt T, Strupp M (1997) Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). Audiol Neurootol 2: 373-383
3. Catterall WA (1998) Structure and function of neuronal Ca2+ channels and their role in neurotransmitter release. Cell Calcium 24: 307-323
4. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109: 121-124
5. Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gerard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E (1999) High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 52: 1816-1821
6. Denier C, Ducros A, Durr A, Eymard B, Chassande B, and Tournier-Lasserve E (2001) Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol 58: 292-295
7. Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, and Richards RI (1999) Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM Hum Genet 105: 261-265
8. Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, and Pietrobon D (2001) Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 68: 759-764
9. Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin CJ, Kim G, Yue Q, Papazian DM, and Baloh RW (2001) Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 57: 1843-1848
10. Jen J, Yue Q, Nelson SF, Yu H, Litt M, Nutt J, and Baloh RW (1999) A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. Neurology 53: 34-37
11. Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, and Hanna MG (2001) Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 358: 801-807
12. Kramer PL, Yue Q, Gancher ST, Nutt JG, Baloh RW, Smith E, Browne D, Bussey K, Lovrien E, Nelson SF, and Litt M (1995) A locus for the nystagmus-associated form of episodic ataxia maps to an 11-CM region on chromosome 19p. Am J Med Genet 57: 182-185 (letter)
13. Miller SA, Dykes DD, and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
14. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87: 543-52
15. Scoggan KA, Chandra T, Nelson R, Hahn AF, and Bulman DE (2001) Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. J Med Genet 38: 249-253
16. Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, and Larsson C (1995) Familial periodic cerebellar ataxia without myokymia maps to a 19-CM region on 19p13. Am J Hum Genet 56: 1443-1449
17. Vahedi K, Joutel A, Bogaert van P, Ducros A, Maciazeck J, Bach JF, Bousser MG, and Tournier-Lasserve E (1995) A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 37: 289-293
18. Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, and Bulman DE (1995) Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 4: 279-284
19. Wappl E, Koschak A, Poteser M, Sinnegger MJ, Walter D, Eberhart A, Groschner K, Glossmann H, Kraus RL, Grabner M, Striessnig J (2002) Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem 277: 6960-6966
20. White JC (1969) Familial periodic nystagmus, vertigo, and ataxia. Arch Neurol 20: 276-280
21. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WD, Subramony SH, Zoghby HY, and Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel. Nat Genet 15: 62-69