Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Journal of the Neurological Sciences

Volumn 291, Issue 1-2, 2010, Pages 30-36

  Mantuano, Elide ^a   Romano, Silvia ^b   Veneziano, Liana ^a   Gellera, Cinzia ^b   Castellotti, Barbara ^b   Caimi, Sara ^b   Testa, Daniela ^b   Estienne, Margherita ^b   Zorzi, Giovanna ^b   Bugiani, Marianna ^b   Rajabally, Yusuf A ^c   Barcina, Maria J Garcìa ^d   Servidei, Serena ^e   Panico, Aurora ^f   Frontali, Marina ^a   Mariotti, Caterina ^b  

^a CNR   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^d Genitiva Unitatea   (Spain)

^e CATHOLIC UNIVERSITY   (Italy)

^f Servizio di Neurologia Noale   (Italy)

Author keywords

Acetazolamide; CACNA1A; Calcium channel; EA2; Episodic ataxia; Paroxysmal torticollis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CACNA1A GENE; CHILD; CHROMOSOME 19P; CLINICAL ARTICLE; CLINICAL FEATURE; EPISODIC ATAXIA TYPE 2; EXON; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPLICING DEFECT; STOP CODON; TORTICOLLIS;

ADOLESCENT; ADULT; AGED; ATAXIA; CALCIUM CHANNELS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 77349118451     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.01.010     Document Type: Article

References (32)

1. Jen J.C., Graves T.D., Hess E.J., Hanna M.G., Griggs R.C., Baloh R.W., and CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 130 (2007) 2484-2493
2. Giffin N.J., Benton S., and Goadsby P.J. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 44 (2002) 490-493
3. Graves T.D., Imbrici P., Kors E.E., et al. Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. Neurobiol Dis 32 (2008) 10-15
4. Roubertie A., Echenne B., Leydet J., et al. Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol 255 (2008) 1600-1602
5. Cuenca-León E., Corominas R., Fernàndez-Castillo N., et al. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia 28 (2008) 1039-1047
6. Ophoff R.A., Terwindt G.M., Vergouwe M.N., et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87 (1996) 543-552
7. Guida S., Trettel F., Pagnutti S., et al. 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 (2001) 759-764
8. Jen J., Wan J., Graves M., et al. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 57 (2001) 1843-1848
9. Riant F., Mourtada R., Saugier-Veber P., and Tournier-Lasserve E. Large CACNA1A deletion in a family with episodic ataxia type 2. Arch Neurol 65 (2008) 817-820
10. Jen J., Yue Q., Nelson S.F., Yu H., Litt M., Nutt J., and Baloh R.W. A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. Neurology 53 (1999) 34-37
11. Ducros A., Denier C., Joutel A., et al. The clinical spectrum of familial hemiplegic migraine associated with mutation in a neuronal calcium channel. N Engl J Med 345 (2001) 17-24
12. Jodice C., Mantuano E., Veneziano L., et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6 (1997) 1973-1978
13. Mantuano E., Veneziano L., Spadaro M., 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 41 (2004) 82-87
14. Eunson L.H., Graves T.D., and Hanna M.G. New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. Neurology 65 (2005) 308-310
15. Denier C., Ducros A., Vahedi K., et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 52 (1999) 1816-1821
16. Jen J., Kim G.W., and Baloh R.W. Clinical spectrum of episodic ataxia type 2. Neurology 62 (2004) 17-22
17. Catterall W.A. Structure and regulation of voltage-gated Ca2+ channels. Annu Rev Cell Dev Biol 16 (2000) 521-555
18. Escayg A., De Waard M., Lee D.D., et al. Coding and non coding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66 (2000) 1531-1539
19. Mochida S., Westenbroek R.E., Yokoyama C.T., et al. Requirement for the synaptic protein interaction site for reconstitution of synaptic transmission by P/Q-type calcium channels. Proc Natl Acad Sci U S A 100 (2003) 2819-2824
20. Chaudhuri D., Chang S.Y., DeMaria C.D., Alvania R.S., Soong T.W., and Yue D.T. Alternative splicing as a molecular switch for Ca2+/calmodulin-dependent facilitation of P/Q-type Ca2+ channels. J Neurosci 24 (2004) 6334-6342
21. Spacey S.D., Materek L.A., Szczygielski B.I., and Bird T.D. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 62 (2005) 314-316
22. Zafeiriou D.I., Lehmann-Horn F., Vargiami E., Teflioudi E., Ververi A., and Jurkat-Rott K. Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. Eur J Paediatr Neurol 13 (2009) 191-193
23. Gargus J.J. Ion channel functional candidate genes in multigenic neuropsychiatric disease. Biol Psychiatry 60 (2006) 177-185
24. Labrum R.W., Rajakulendran S., Graves T.D., et al. Large-scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. J Med Genet 46 (2009) 786-791
25. Riant F., Lescoat C., Vahedi K., et al. Identification of CACNA1A large deletions in four patients with episodic ataxia. Neurogenetics 11 (2010) 101-106
26. Graves T.D., and Hanna M.G. Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. J Neurol 255 (2008) 1097-1099
27. Raike R.S., Kordasiewicz H.B., Thompson R.M., and Gomez C.M. Dominant-negative suppression of Cav2.1 current by alpha12.1 truncations requires the conserved interaction domain for beta subunits. Mol Cell Neurosci 34 (2007) 168-177
28. Mezghrani A., Monteil A., Watschinger K., et al. A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels. J Neurosci 28 (2008) 4501-4511
29. Linde L., Boelz S., Neu-Yilik G., Kulozik A.E., and Kerem B. The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells. Eur J Hum Genet 15 (2007) 1156-1162
30. Scoggan K.A., Friedman J.H., and Bulman D.E. CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. Can J Neurol Sci 33 (2006) 68-72
31. Miki T., Zwingman T.A., Wakamori M., et al. Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies. Neuroscience 155 (2008) 31-44
32. Veneziano L., Guida S., Mantuano E., et al. Newly characterised 5′ and 3′ regions of CACNA1A gene harbour mutations associated with familial hemiplegic migraine and episodic ataxia. J Neurol Sci 276 (2009) 31-37