Genetic heterogeneity in Italian families with familial hemiplegic migraine

Carrera, Paola; Piatti, M.; Stenirri, Stefania; Grimaldi, L. M E; Marchioni, Enrico; Curcio, Mario; Righetti, P. G.; Ferrari, Maurizio; Gelfi, Cecilia

doi:10.1212/wnl.53.1.26

Cited by 98 publications

(51 citation statements)

References 25 publications

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“…Only two FHM mutations are in S5-S6 linkers, and are in the selectivity filter sequence: T666M in domain II, associated with an ataxic phenotype, 12 and V1457L in domain III, with no details of the associated clinical picture. 11 Furthermore, it should be noted that two out of three NTR CACNA1A mutations carried by ataxic mice, tottering (tg) and rocker (rkr), have a location similar to that of human NTR mutations, namely tg in S5-S6 linker of the II repeat 37 and rkr in S5-6 linker of the III repeat 38 ( fig 2). Of the three EA2 mutations located outside the preferential areas, one (R2136C, identified in the present study) is in the COOH tail upstream of the polyglutamine repeat.…”

Section: Clinical Featuresmentioning

confidence: 99%

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

Mantuano

2004

Journal of Medical Genetics

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N Episodic ataxia type 2 (EA2) is mostly due to loss of function mutations that truncate or severely disrupt the pore forming (Cav2.1) subunit of P/Q type Ca2+ channels, coded by the CACNA1A gene. Gain of function missense mutations of the same gene are responsible for familial hemiplegic migraine. In a few cases, EA2 is due to mutations that do not truncate or disrupt the Cav2.1 subunit. N Screening for CACNA1A gene mutations was carried out for 27 patients with either typical EA2 or cerebellar ataxia of no known genetic type. N Five new Cav2.1 non-truncating/disrupting mutations were detected. From almost doubling the number of these mutations, it clearly emerges that they have a preferential location in specific protein regions, namely S5–S6 linkers and their borders. Their associated clinical phenotype is comparable with that reported for carriers of truncating/disrupting mutations, but data suggest a possible difference in age at onset and frequency of mental retardation. N The results show that EA2 mutations that do not truncate or disrupt the Cav2.1 subunit are not as rare as previously thought. Their associated phenotype might be less severe than that of truncating/disrupting mutations. They are clustered in highly conserved protein regions which may be particularly vulnerable to amino acid changes and are likely to have a critical role in the channel gating activity

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Section: Clinical Featuresmentioning

confidence: 99%

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

Mantuano

2004

Journal of Medical Genetics

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“…12 ). Several missense variants in pore-loop regions have been described in the medical literature so far [12][13][14][15][16][17][18][19][20][21][22][23][24] . Structural changes in pore-loop regions can lead to functional changes disabling activation or inactivation of calcium flux 16 .…”

Section: Discussionmentioning

confidence: 99%

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Petrovičová¹,

Brozman²,

Kurča³

et al. 2017

BIOMED PAP

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“…Familial hemiplegic migraine (FHM) is a rare autosomal dominant-type migraine with aura which is inherited by dominant trait, even though there are reports of sporadic occurrence [1][2][3][4]. A single familial hemiplegic migraine locus has been previously mapped to chromosome 19p13.1 [3][4][5][6][7][8][9][10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

“…A single familial hemiplegic migraine locus has been previously mapped to chromosome 19p13.1 [3][4][5][6][7][8][9][10][11][12][13]. Studies in different FHM families showed that additional causative genes must reside in other regions of the genome, including the long arm of chromosome 1 [5,8,9,12,14,15].…”

Section: Introductionmentioning

confidence: 99%

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Neuropsychologic phenotypes in familial hemiplegic migraine

Roccella

2003

J Headache Pain

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The 3 adolescents studied are from a large family in which the mother and 6 of 8 children are affected by FHM. The affected children are 4 males aged 33, 30, 15 and 13 years, and 2 females aged 30 and 10 years. Convulsions with fever were reported by the Michele RoccellaAbstract Familial hemiplegic migraine (FHM) is a rare autosomal dominant-type migraine with aura. Attacks are characterised by hemiparesis in addition to other aura and migraine symptoms. Few studies have examined the influence of FHM on cognitive functions. This study was aimed to investigate neuropsychological functions in 3 adolescent siblings suffering from FHM assessed six months after the last attack. No relevant deficits were found on a battery of multisectorial tests exploring cognitive functions. Sporadic FHM attack therefore seems not to affect cognition in these patients, at least far from the crises.

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Genetic heterogeneity in Italian families with familial hemiplegic migraine

Abstract: Genetic heterogeneity of FHM has been shown in familial and sporadic FHM patients of Italian origin. The new missense mutation-G4644T-is associated with milder clinical features compared with typical FHM.

Cited by 98 publications

References 25 publications

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Neuropsychologic phenotypes in familial hemiplegic migraine

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