scholarly journals Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene

2002 ◽  
Vol 72 (5) ◽  
pp. 676-a-677 ◽  
Author(s):  
T Takahashi
Keyword(s):  
Cerebellar Ataxia ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

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 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.

CACNA1A Gene Polymorphisms in Cluster Headache

Cephalalgia ◽  
2001 ◽  
Vol 21 (10) ◽  
pp. 953-958 ◽  
Author(s):  
C Sjöstrand ◽  
V Giedratis ◽  
K Ekbom ◽  
E Waldenlind ◽  
J Hillert
Keyword(s):  
Cluster Headache ◽  
Primary Headache ◽  
Headache Disorder ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Promising Candidate ◽  
Primary Headache Disorder ◽  
Increased Risk ◽  
Ihs Criteria ◽  
Cacna1a Gene

Cluster headache (CH) is a primary headache disorder where the aetiological and pathophysiological mechanisms still are largely unknown. An increased risk of CH in first- and second-degree relatives suggests the importance of genetic factors. Mutations of the P/Q type calcium channel alpha 1 subunit (CACNA1A) gene on chromosome 19p13 have been shown to cause several neurological disorders with a wide clinical spectrum, mainly episodic diseases. Missence mutations of the gene cause familial hemiplegic migraine (FHM) and it is also likely to be involved in the more common forms of migraine. The CACNA1A gene is thus a promising candidate gene for CH. In this study we performed an association analysis of an intragenic polymorphic (CA)n-repeat with marker D19S1150 and a (CAG)n-repeat in the 3′UTR region, in 75 patients with CH according to IHS criteria and 108 matched controls. Genotypes and allele frequencies were similarly distributed in patients and controls. Linkage disequilibrium between the two markers was similar in patients and controls. We conclude that an importance of the CACNA1A gene in sporadic CH is unlikely.

Head tremor related to CACNA1A mutations

Cephalalgia ◽  
2011 ◽  
Vol 31 (12) ◽  
pp. 1315-1319 ◽  
Author(s):  
Rianne PJ Geerlings ◽  
Peter J Koehler ◽  
Danielle YP Haane ◽  
Anine H Stam ◽  
Boukje de Vries ◽  
...  
Keyword(s):  
Case Report ◽  
Familial Hemiplegic Migraine ◽  
Familial Occurrence ◽  
Hemiplegic Migraine ◽  
Head Tremor ◽  
Mutation Carriers ◽  
Cacna1a Gene ◽  
Cerebellar Symptoms

Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1–3 mutation carriers, including epilepsy and cerebellar symptoms. Case report: We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene. Discussion: CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.

Newly characterised 5′ and 3′ regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

2009 ◽  
Vol 276 (1-2) ◽  
pp. 31-37 ◽  
Author(s):  
Liana Veneziano ◽  
Serena Guida ◽  
Elide Mantuano ◽  
Paola Bernard ◽  
Patrizia Tarantino ◽  
...  
Keyword(s):  
Familial Hemiplegic Migraine ◽  
Episodic Ataxia ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

Familial Hemiplegic Migraine: A Clinical Comparison of Families Linked and Unlinked to Chromosome 19

Cephalalgia ◽  
1996 ◽  
Vol 16 (3) ◽  
pp. 153-155 ◽  
Author(s):  
GM Terwindt ◽  
RA Ophoff ◽  
J Haan ◽  
RR Frants ◽  
MD Ferrari ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Features ◽  
Head Trauma ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Familial Hemiplegic Migraine ◽  
Chromosome 19 ◽  
Hemiplegic Migraine ◽  
Clinical Comparison ◽  
Progressive Cerebellar Ataxia

We compared the clinical characteristics of 50 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39%, vs 15%; p<0.05) and provocation of attacks by mild head trauma (70% vs 40%; p< 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features.

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