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


METHODS
Clinical 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.


CONCLUSIONS
The presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.
Department of Neurology, Medical University of Warsaw, Warsaw, Poland. Electronic address: bkierdaszuk@gmail.com.
Biruta
B
Kierdaszuk
Department of Neurology, Medical University of Warsaw, Warsaw, Poland; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Dorota
D
Dziewulska
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.
Ewa
E
Pronicka
Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Joanna
J
Trubicka
Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
Dariusz
D
Rokicki
Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Dorota
D
Piekutowska-Abramczuk
Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland.
Magdalena
M
Kaliszewska
Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland.
Katarzyna
K
Tonska
Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
Ewa
E
Bartnik
Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Rafal
R
Ploski
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Anna M
AM
Kaminska
D001921:Brain / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006580:Genetic Carrier Screening; D055106:Genome-Wide Association Study; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011044:Poland; D055815:Young Adult; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type
CACNA1A; Calcium channel; Familial hemiplegic migraine; Migraine