Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family

JAMA Neurology

Volumn 70, Issue 2, 2013, Pages 235-240

  Barros, José ^a,b   Damásio, Joana ^a   Tuna, Assunção ^a   Alves, Ivânia ^d   Silveira, Isabel ^c   Pereira Monteiro, José ^a,b,c   Sequeiros, Jorge ^b,c   Alonso, Isabel ^b,c   Sousa, Alda ^b,c   Coutinho, Paula ^c  

^a HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d Hospital So Sebastio   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL P TYPE; CALCIUM CHANNEL Q TYPE; DNA;

ADULT; AGED; ARTICLE; CACNA1A GENE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; COMA; COMMUNITY CARE; FAMILY STUDY; FEMALE; FOLLOW UP; GENE EXPRESSION; GENETIC ASSOCIATION; HEAD INJURY; HEALTH SURVEY; HEMIPLEGIC MIGRAINE; HOSPITAL CARE; HUMAN; MALE; MIGRAINE WITH AURA; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEUROLOGIC DISEASE; OBSERVATIONAL STUDY; ONSET AGE; PENETRANCE; PHENOTYPIC VARIATION; POPULATION RESEARCH; PORTUGAL; PRIORITY JOURNAL; PROTEIN FUNCTION; TRANSIENT FOCAL NEUROLOGICAL DEFICIT;

EID: 84874027219     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.591     Document Type: Article

References (29)

1. Headache Classification Subcommittee of the International Headache Society. The International Classification of Headache Disorders: 2nd edition. Cephalalgia. 2004;24(suppl 1):9-160.
2. Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol. 2011;10(5):457-470.
3. Thomsen LL, Eriksen MK, RoemerSF, Andersen I, Olesen J, Russell MB. A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria. Brain. 2002;125(pt6):1379-1391.
4. Barrett CF, van den Maagdenberg AM, Frants RR, Ferrari MD. Familial hemiplegic migraine. Adv Genet. 2008;63:57-83.
5. Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. NEnglJMed. 2001;345(1):17-24
6. Echenne B, Ducros A, Rivier F, et al. Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1 Neuropediatrics. 1999;30(4):214-217
7. Kors EE, Terwindt GM, Vermeulen FL, et al. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol. 2001 49(6)753-760
8. Vanmolkot KR, Kors EE, Hottenga JJ, et al. Novel mutations in the Na+, K+- ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol. 2003;54(3):360-366
9. LebasA, Guyant-Marechal L, Hannequin D, RiantF, Tournier-Lasserve E, Parain D. Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation. Cephalalgia. 2008;28(7):774-777
10. Castro MJ, Stam AH, Lemos C, et al. First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia. 2009;29(3):308-313
11. Haan J, Terwindt GM, Ophoff RA, et al. Is familial hemiplegic migraine a hereditary form of basilar migraine? Cephalalgia. 1995;15(6):477-481
12. Vahedi K, Depienne C, Le Fort D, et al. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology. 2009;72(13):1178-1183
13. Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87(3):543-552.
14. Schraeder PL, Burns RA. Hemiplegic migraine associated with an aseptic menngeal reaction. Arch Neurol. 1980;37(6):377-379.
15. FreilingerT, Ackl N, EbertA, et al. A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onsetcognitive decline. J Neurol Sci. 2011;300(1-2):160-163
16. Alonso I, Barros J, Tuna A, et al. A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Clin Genet. 2004; 65(1):70-72.
17. Kors EE, Haan J, Giffin NJ, et al. Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine Arch Neurol. 2003;60(5):684-688.
18. Young GF, Leon-Barth CA, Green J. Familial hemiplegic migraine, retinal degeneration, deafness, and nystagmus. Arch Neurol. 1970;23(3):201-209
19. Takahashi T, Igarashi S, Kimura T, et al. Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene J Neurol Neurosurg Psychiatry. 2002;72(5):676-677.
20. Joutel A, Bousser MG, Biousse V, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet. 1993;5(1):40-45
21. Marti S, Baloh RW, Jen JC, Straumann D, Jung HH. Progressivecerebellarataxia with variable episodic symptoms: phenotypic diversity of R1668W CACNA1A mutation. Eur Neurol. 2008;60(1):16-20
22. Ducros A, Denier C, Joutel A, et al. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet. 1999;64(1):89-98.
23. Alonso I, Barros J, Tuna A, et al. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol. 2003;60(4):610-614
24. Silva MC, Coutinho P, PinheiroCD, Neves JM, Serrano P. Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal J Clin Epidemiol. 1997;50(12):1377-1384
25. Cohn ES, Kelley PM. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 1999;89(3):130-136.
26. Merikangas KR, Cui L, Richardson AK, et al. Magnitude, impact, and stability of primary headache subtypes: 30 year prospective Swiss cohort study. BMJ. 2011 343:d5076
27. Thomsen LL, Olesen J, Russell MB. Increased risk of migraine with typical aura n probands with familial hemiplegic migraine and their relatives. Eur J Neurol 2003;10(4):421-427
28. Stam AH, Louter MA, Haan J, et al. A long-term follow-up study of 18 patients with sporadic hemiplegic migraine. Cephalalgia. 2011;31(2):199-205
29. Kraus RL, Sinnegger MJ, Koschak A, et al. Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics. J Biol Chem. 2000 275(13):9239-9243