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Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report
Affiliations- Department of Neurology, Medical University of Warsaw, 8 Kondratowicza str, 03-242 Warsaw, Poland
- Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
- Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
- Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland
- Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland
- Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland
- Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
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Abstract
Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes.
Case reportClinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report. The most characteristic were recurrent attacks of blurred vision, paresthesias and hemiparesis often accompanied by speech disturbances and followed by severe headache with vomiting. Advanced morphological and genetic procedures were required to exclude MELAS, CADASIL and Call-Fleming syndrome. Finally, the definite diagnosis was possible after the application of the whole exome sequencing technique. It confirmed, for the first time in the Polish population, a heterozygous T666M mutation (c.1997C>T; p.Thr666Met) in the CACNA1A gene in the proband, the proband's son and in several other family members.
ConclusionThe presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.
Abstract
Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes.
Case reportClinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report. The most characteristic were recurrent attacks of blurred vision, paresthesias and hemiparesis often accompanied by speech disturbances and followed by severe headache with vomiting. Advanced morphological and genetic procedures were required to exclude MELAS, CADASIL and Call-Fleming syndrome. Finally, the definite diagnosis was possible after the application of the whole exome sequencing technique. It confirmed, for the first time in the Polish population, a heterozygous T666M mutation (c.1997C>T; p.Thr666Met) in the CACNA1A gene in the proband, the proband's son and in several other family members.
ConclusionThe presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.
Keywords
Migraine, Familial hemiplegic migraine, Calcium channel, CACNA1A
About this articleTitle
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
184-189
Page views
542
Article views/downloads
597
DOI
10.1016/j.pjnns.2017.01.005
Bibliographic record
Neurol Neurochir Pol 2017;51(2):184-189.
Keywords
Migraine
Familial hemiplegic migraine
Calcium channel
CACNA1A
Authors
Biruta Kierdaszuk
Dorota Dziewulska
Ewa Pronicka
Joanna Trubicka
Dariusz Rokicki
Dorota Piekutowska-Abramczuk
Magdalena Kaliszewska
Katarzyna Tonska
Ewa Bartnik
Rafal Ploski
Anna M. Kaminska
