Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

被引：123

作者：

Jurkat-Rott, K

Freilinger, T

Dreier, JP

Herzog, J

Göbel, H

Petzold, GC

Montagna, P

Tasser, T

Lehman-Horn, F

Dichgans, M

机构：

[1] Univ Ulm, Dept Appl Physiol, D-89069 Ulm, Germany

[2] Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, Germany

[3] Humboldt Univ, Charite, Dept Neurol, Berlin, Germany

[4] Univ Kiel, Dept Neurol, D-2300 Kiel, Germany

[5] Univ Tubingen, Dept Neurol, Hertie Inst Clin Brain Res, D-7400 Tubingen, Germany

[6] Univ Bologna, Dept Neurol Sci, I-40126 Bologna, Italy

来源：

NEUROLOGY | 2004年 / 62卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000127310.11526.FD

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.

引用

收藏

页码：1857 / 1861

页数：5

相关论文

共 10 条

[1] Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family [J].

Cevoli, S ;

Pierangeli, G ;

Monari, L ;

Valentino, ML ;

Bernardoni, P ;

Mochi, M ;

Cortelli, P ;

Montagna, P .

NEUROLOGICAL SCIENCES, 2002, 23 (01) :7-10

[2] Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 [J].

De Fusco, M ;

Marconi, R ;

Silvestri, L ;

Atorino, L ;

Rampoldi, L ;

Morgante, L ;

Ballabio, A ;

Aridon, P ;

Casari, G .

NATURE GENETICS, 2003, 33 (02) :192-196

[3] Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity [J].

Ducros, A ;

Joutel, A ;

Vahedi, K ;

Cecillon, M ;

Ferreira, A ;

Bernard, E ;

Verier, A ;

Echenne, B ;

de Munain, AL ;

Bousser, MG ;

Tournier-Lasserve, E .

ANNALS OF NEUROLOGY, 1997, 42 (06) :885-890

[4] The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. [J].

Ducros, A ;

Denier, C ;

Joutel, A ;

Cecillon, M ;

Lescoat, C ;

Vahedi, K ;

Darcel, F ;

Vicaut, E ;

Bousser, M ;

Tournier-Lasserve, E .

NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (01) :17-U5

[5] A new locus for hemiplegic migraine maps to chromosome 1q31 [J].

Gardner, K ;

Barmada, MM ;

Ptacek, LJ ;

Hoffman, EP .

NEUROLOGY, 1997, 49 (05) :1231-1238

[6]

Gardner K, 2004, CEPHALALGIA, V24, P149

[7] Structure and mechanism of Na,K-ATPase:: Functional sites and their interactions [J].

Jorgensen, PL ;

Håkansson, KO ;

Karlish, SJD .

ANNUAL REVIEW OF PHYSIOLOGY, 2003, 65 :817-849

[8]

Ophoff RA, 1996, EUR J HUM GENET, V4, P321

[9] FLUNARIZINE IN PROPHYLAXIS OF CHILDHOOD MIGRAINE - A DOUBLE-BLIND, PLACEBO-CONTROLLED, CROSSOVER STUDY [J].

SORGE, F ;

DESIMONE, R ;

MARANO, E ;

NOLANO, M ;

OREFICE, G ;

CARRIERI, P .

CEPHALALGIA, 1988, 8 (01) :1-6

[10] Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions [J].

Vanmolkot, KRJ ;

Kors, EE ;

Hottenga, JJ ;

Terwindt, GM ;

Haan, J ;

Hoefnagels, WAJ ;

Black, DF ;

Sandkuijl, LA ;

Frants, RR ;

Ferrari, MD ;

van den Maagdenberg, AMJM .

ANNALS OF NEUROLOGY, 2003, 54 (03) :360-366