New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus

2004 ◽  
Vol 52 (1) ◽  
pp. 58-61 ◽  
Author(s):  
Katell Beauvais ◽  
Florence Cavé-Riant ◽  
Claire De Barace ◽  
Marc Tardieu ◽  
Elisabeth Tournier-Lasserve ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

scholarly journals Effects of LPS on P2X3 receptors of trigeminal sensory neurons and macrophages from mice expressing the R192Q Cacna1a gene mutation of familial hemiplegic migraine-1

2012 ◽  
Vol 9 (1) ◽  
pp. 7-13 ◽  
Author(s):  
Alessia Franceschini ◽  
Swathi K. Hullugundi ◽  
Arn M. J. M. van den Maagdenberg ◽  
Andrea Nistri ◽  
Elsa Fabbretti
Keyword(s):  
Gene Mutation ◽  
Sensory Neurons ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
P2x3 Receptors ◽  
Cacna1a Gene

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 38-38 ◽  
Author(s):  
S. Battistini ◽  
S. Stenirri ◽  
M. Piatti ◽  
C. Gelfi ◽  
P. G. Righetti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

2017 ◽  
Vol 51 (2) ◽  
pp. 184-189
Author(s):  
Biruta Kierdaszuk ◽  
Dorota Dziewulska ◽  
Ewa Pronicka ◽  
Joanna Trubicka ◽  
Dariusz Rokicki ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
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.

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