scholarly journals Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
E. Martínez ◽  
R. Moreno ◽  
L. López-Mesonero ◽  
I. Vidriales ◽  
M. Ruiz ◽  
...  
Keyword(s):  
Ct Perfusion ◽  
Familial Hemiplegic Migraine ◽  
Sudden Onset ◽  
Normal Brain ◽  
Hemiplegic Migraine ◽  
Perfusion Study ◽  
Motor Weakness ◽  
Atp1a2 Gene ◽  
Type Headache

Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology.Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis. Computed tomography (CT) showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere. A normal brain magnetic resonance (MR) was obtained. Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years. We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel).Conclusion. Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.

A long-term follow-up study of 18 patients with sporadic hemiplegic migraine

Cephalalgia ◽  
2010 ◽  
Vol 31 (2) ◽  
pp. 199-205 ◽  
Author(s):  
Anine H Stam ◽  
Mark A Louter ◽  
Joost Haan ◽  
Boukje de Vries ◽  
Arn MJM van den Maagdenberg ◽  
...  
Keyword(s):  
Familial Hemiplegic Migraine ◽  
Initial Diagnosis ◽  
Hemiplegic Migraine ◽  
Optimal Care ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
Atp1a2 Gene ◽  
Long Term Prognosis

Objective: Our objective was to study the long-term prognosis of sporadic hemiplegic migraine (SHM). Methods: We performed a longitudinal follow-up study in 18 patients who were diagnosed with SHM between 1993 and 1996. Follow-up time between the first and second survey ranged from nine to 14 years. These patients were included as part of a genetic study in which we systematically analysed the role of the three known familial hemiplegic migraine (FHM) genes. Results: In 12 out of 18 patients the clinical diagnosis was unchanged. In two of the six remaining patients the attacks were no longer associated with hemiplegia; one of them had an ATP1A2 gene mutation (E120A). In the four other patients, the diagnosis changed into FHM, because a family member had developed hemiplegic migraine since the initial diagnosis was made. In two of the four patients a mutation was demonstrated ( CACNA1A [R583Q] and ATP1A2 [R834X]). Conclusion: This study shows that the diagnosis of SHM changes into FHM in a considerable percentage of patients (22% [4 of 18]), almost a decade after the initial diagnosis. This indicates that a careful follow-up of SHM patients and their families is advisable for optimal care and counseling. Diagnostic screening of FHM genes in SHM patients can be of value. Our genetic and clinical follow-up studies reinforce the evidence that FHM and SHM are part of the same spectrum of migraine.

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy

Cephalalgia ◽  
2013 ◽  
Vol 34 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Cinzia Costa ◽  
Paolo Prontera ◽  
Paola Sarchielli ◽  
Alessandra Tonelli ◽  
Maria Teresa Bassi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Febrile Seizures ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Specific Symptom ◽  
Motor Weakness ◽  
Generation Family ◽  
Atp1a2 Gene ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Background Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. Case Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). Conclusions The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.

Evidence for a separate type of migraine with aura

Neurology ◽  
2003 ◽  
Vol 60 (4) ◽  
pp. 595-601 ◽  
Author(s):  
Lise L. Thomsen ◽  
Elsebet Ostergaard ◽  
Jes Olesen ◽  
Michael B. Russell
Keyword(s):  
Migraine With Aura ◽  
Telephone Interview ◽  
Clinical Symptoms ◽  
Familial Hemiplegic Migraine ◽  
Computer Search ◽  
Hemiplegic Migraine ◽  
Motor Weakness ◽  
National Patient Register ◽  
National Patient ◽  
Sequential Appearance

Objective: To compare clinical characteristics of patients with sporadic hemiplegic migraine (SHM) with those of patients with migraine with typical aura (MA) and patients with familial hemiplegic migraine (FHM).Methods: The authors used a computer search of Denmark’s National Patient Register to screen the population for patients with migraine with aura with motor weakness, and also examined case records from headache clinics and private practicing neurologists and placed advertisements. The authors screened patients and their relatives with a semi-structured validated telephone interview. All recruited patients were then interviewed by a physician and given a neurologic examination.Results: A total of 105 patients with SHM were identified. Seventy-two percent had four typical aura symptoms: visual, sensory, aphasic, and motor. All had at least two symptoms present during SHM attacks. A gradual progression and sequential appearance of aura symptoms was typical; compared with MA, the duration of each aura symptom was usually prolonged and bilateral motor symptoms were more frequent. Of the patients with SHM, 72% fulfilled the criteria for basilar migraine during SHM attacks. The aura was usually followed by headache, as is common in FHM but not MA.Conclusions: Patients with sporadic hemiplegic migraine had clinical symptoms identical to familial hemiplegic migraine and significantly different from migraine with typical aura. Sporadic hemiplegic migraine is a separate entity, and should be classified with familial hemiplegic migraine.

The FHM1 Mutation S218L: A Severe Clinical Phenotype? A Case Report and Review of the Literature

Cephalalgia ◽  
2009 ◽  
Vol 29 (12) ◽  
pp. 1337-1339 ◽  
Author(s):  
S Debiais ◽  
C Hommet ◽  
I Bonnaud ◽  
MA Barthez ◽  
S Rimbaux ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Cerebral Oedema ◽  
Clinical Phenotype ◽  
Pregnant Patient ◽  
Familial Hemiplegic Migraine ◽  
Review Of The Literature ◽  
Severe Phenotype ◽  
Hemiplegic Migraine ◽  
Motor Weakness ◽  
Cacna1a Gene

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura that is characterized by motor weakness during attacks. FHM1 is associated with mutations in the CACNA1A gene located on chromosome 19. We report a severe, prolonged HM attack in a young pregnant patient who had the S218L FHM1. This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma. The case history we report suggests a specific, severe phenotype and the co-occurrence of HM and epilepsy related to the S218L FHM1 mutation.

scholarly journals Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy

2020 ◽  
Vol 10 (6) ◽  
pp. 372
Author(s):  
Giangennaro Coppola ◽  
Grazia Maria Giovanna Pastorino ◽  
Luigi Vetri ◽  
Floriana D’Onofrio ◽  
Francesca Felicia Operto
Keyword(s):  
Clinical Condition ◽  
Clinical Symptoms ◽  
Familial Hemiplegic Migraine ◽  
The Other ◽  
Carrier Status ◽  
Maternal Grandmother ◽  
Hemiplegic Migraine ◽  
Italian Family ◽  
Whole Exome

An Italian family with familial hemiplegic migraine (FHM) with the absence of mutations in the known genes associated with this disorder, namely ATP1A2, ATP1A3, CACNA1A, and SCN1A, has recently been reported. Soon afterward, whole exome sequencing allowed the identification of the carrier status of a heterozygous ATP1A4 mutation c.1798 C >T, in four affected members of this family. Here we compare the clinical symptoms of the affected family members with those from the other FHM families linked to mutations in the known genes associated with this disorder. A further two-year follow-up, including clinical response to carbamazepine administered to the proband and the maternal grandmother due to a worsening of the migraine symptoms, is reported. The clinical condition of the proband’s brother, carrying the same mutation and suffering from congenital ventricular and supraventricular extrasystoles, isdiscussed as well.

Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions

Cephalalgia ◽  
2019 ◽  
Vol 39 (10) ◽  
pp. 1333-1338 ◽  
Author(s):  
Antonio de Iure ◽  
Petra Mazzocchetti ◽  
Guendalina Bastioli ◽  
Barbara Picconi ◽  
Cinzia Costa ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Long Term Potentiation ◽  
Familial Hemiplegic Migraine ◽  
Loss Of Function ◽  
Hemiplegic Migraine ◽  
Term Potentiation ◽  
Atp1a2 Gene ◽  
Ca1 Area ◽  
Reduced Rate

Introduction Familial hemiplegic migraine 2 is a pathology linked to mutation of the ATP1A2 gene producing loss of function of the α2 Na+/K+-ATPase (NKA). W887R/+ knock-in (KI) mice are used to model the familial hemiplegic migraine 2 condition and are characterized by 50% reduced NKA expression in the brain and reduced rate of K+ and glutamate clearance by astrocytes. These alterations might, in turn, produce synaptic changes in synaptic transmission and plasticity. Memory and learning deficits observed in familial hemiplegic migraine patients could be ascribed to a possible alteration of hippocampal neuronal plasticity and measuring possible changes of long-term potentiation in familial hemiplegic migraine 2 KI mice might provide insights to strengthen this link. Results Here we have investigated synaptic plasticity in distinct hippocampal regions in familial hemiplegic migraine 2 KI mice. We show that the dentate gyrus long-term potentiation of familial hemiplegic migraine 2 mice is abnormally increased in comparison with control animals. Conversely, in the CA1 area, KI and WT mice express long-term potentiation of similar amplitude. Conclusions The familial hemiplegic migraine 2 KI mice show region-dependent hippocampal plasticity abnormality, which might underlie some of the memory deficits observed in familial migraine.

Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura

Cephalalgia ◽  
2015 ◽  
Vol 36 (3) ◽  
pp. 279-283 ◽  
Author(s):  
Jakob Udby Blicher ◽  
Anna Tietze ◽  
Manus J Donahue ◽  
Seth A Smith ◽  
Leif Østergaard
Keyword(s):  
Capillary Flow ◽  
Chemical Exchange ◽  
Familial Hemiplegic Migraine ◽  
Chemical Exchange Saturation Transfer ◽  
Hemiplegic Migraine ◽  
Flow Disturbances ◽  
Atp1a2 Gene ◽  
Magnetic Resonance Imaging Mri ◽  
Suspected Stroke

Introduction To investigate tissue flow disturbance and hypoxia during migraine aura, we studied a case of familial hemiplegic migraine (FHM) using novel magnetic resonance imaging (MRI) techniques. Case results A 44-year-old male was admitted with suspected stroke because of confusion and aphasia. Initial gadolinium-based perfusion MRI showed a decrease in cerebral blood flow and an increase in capillary flow disturbances within the left hemisphere. Later during the prolonged aura phase, chemical exchange saturation transfer MRI indicated a drop in pH in the affected area. The patient was diagnosed with an R908Q mutation in the ATP1A2 gene causing FHM type 2. Discussion During prolonged aura in FHM, MRI shows reduced CBF, capillary flow disturbances and a possible pH drop that could indicate tissue hypoxia.

Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation

Cephalalgia ◽  
2008 ◽  
Vol 28 (7) ◽  
pp. 774-777 ◽  
Author(s):  
A Lebas ◽  
L Guyant-Maréchal ◽  
D Hannequin ◽  
F Riant ◽  
E Tournier-Lasserve ◽  
...  
Keyword(s):  
Epileptic Seizures ◽  
Familial Hemiplegic Migraine ◽  
Absence Epilepsy ◽  
Childhood Epilepsy ◽  
Childhood Absence Epilepsy ◽  
Severe Attack ◽  
Hemiplegic Migraine ◽  
New Mutation ◽  
Atp1a2 Gene ◽  
Clonic Seizures

We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12. One individual had also childhood absence epilepsy and generalized tonic-clonic seizures (GTCS). GTCS were followed by a severe attack of hemiplegic migraine at four times. Sodium valproate enabled control of both the epileptic seizures and the most severe FHM attacks. This association of FHM and epileptic seizures and their control with the same treatment suggest similar pathophysiological mechanisms.

A Case of Familial Hemiplegic Migraine Associated With a Novel ATP1A2 Gene Mutation

2012 ◽  
Vol 47 (2) ◽  
pp. 133-136 ◽  
Author(s):  
Angela De Cunto ◽  
Marco Bensa ◽  
Alessandra Tonelli
Keyword(s):  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Atp1a2 Gene
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