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.

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.

scholarly journals Detection of a Novel Mutation in the CACNA1A gene

2012 ◽  
Vol 15 (1) ◽  
pp. 120-125 ◽  
Author(s):  
Shani Stuart ◽  
Bishakha Roy ◽  
Gail Davies ◽  
Nevene Maksemous ◽  
Robert Smith ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Diagnostic Procedures ◽  
Familial Hemiplegic Migraine ◽  
Therapeutic Agents ◽  
Phenotypic Effect ◽  
Hemiplegic Migraine ◽  
New Information ◽  
Cacna1a Gene ◽  
Improving Accuracy

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. It is divided into three subtypes FHM1, FHM2 and FHM3, which are caused by mutations in the CACNA1A, ATP1A2 and SCN1A genes respectively. As part of a regular diagnostic service, we investigated 168 patients with FHM symptoms. Samples were tested for mutations contained within the CACNA1A gene. Some tested samples (4.43%) showed an FHM1 mutation, with five of the mutations found in exon 5, one mutation in exon 16 and one in exon 17. Four polymorphisms were also detected, one of which occurred in a large percentage of samples (14.88%). The exon 16 2094G>A polymorphism, however, has been found to occur in healthy Caucasian control populations up to a frequency of 16% and is not considered to be significantly associated with FHM. A finding of significance, found in a single patient, was the detection of a novel mutation in exon 5 that results in a P225H change. The affected individual was an 8-year-old female. The exact phenotypic effect of this mutation is unknown, and further studies are needed to understand the pathophysiology of this mutation in FHM1. New information will allow for diagnostic procedures to be constantly updated, thus improving accuracy of diagnosis. It is possible that new information will also aid the development of new therapeutic agents for the treatment of FHM.

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.

scholarly journals Review of familial hemiplegic migraine, successful outcome in a pregnant patient

2019 ◽  
Vol 7 (12) ◽  
pp. 2495-2499
Author(s):  
Brent C. Monseur ◽  
Hannah B. Anastasio ◽  
Andrew Haddad ◽  
Huda B. Al‐Kouatly
Keyword(s):  
Pregnant Patient ◽  
Familial Hemiplegic Migraine ◽  
Successful Outcome ◽  
Hemiplegic Migraine

scholarly journals Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report

2015 ◽  
Vol 7 (1) ◽  
pp. 84-89 ◽  
Author(s):  
Marie Bruun ◽  
Lena Elisabeth Hjermind ◽  
Carsten Thomsen ◽  
Else Danielsen ◽  
Lise Lykke Thomsen ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Familial Hemiplegic Migraine ◽  
Spinocerebellar Ataxia Type ◽  
Emission Computed Tomography ◽  
Idiopathic Parkinson’S Disease ◽  
Hemiplegic Migraine ◽  
Idiopathic Parkinson's Disease ◽  
Cacna1a Gene

Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

Intracellular and Plasma Magnesium in Familial Hemiplegic Migraine and Migraine With and Without Aura

Cephalalgia ◽  
1994 ◽  
Vol 14 (1) ◽  
pp. 29-32 ◽  
Author(s):  
MC Smeets ◽  
CB Vernooy ◽  
JHM Souverijn ◽  
MD Ferrari
Keyword(s):  
Spreading Depression ◽  
Autosomal Dominant ◽  
Study Groups ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Dominant Type ◽  
Intracellular Magnesium ◽  
Migraine Pathophysiology ◽  
Plasma Magnesium ◽  
Autosomal Dominant Type

Familial hemiplegic migraine (FHM) is an autosomal dominant type of migraine and probably represents the most extreme end of migraine with aura. Reduced magnesium facilitates the development of spreading depression and possibly aura. Cellular magnesium levels are under genetic control. We hypothesized that FHM patients would have significantly reduced intracellular magnesium levels. We determined intracellular and plasma magnesium levels in blood of 38 afflicted and 11 non-afflicted members of three families with FHM and, in 32 migraine patients (9 with and 23 without aura) and 32 age and sex matched healthy controls. We found no significant differences between the magnesium levels in the five study groups. We conclude that reduced blood magnesium is unlikely to be related to migraine pathophysiology.

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.

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