open access

Vol 51, No 2 (2017)
Case reports
Submitted: 2016-08-08
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Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

Biruta Kierdaszuk, Dorota Dziewulska, Ewa Pronicka, Joanna Trubicka, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Katarzyna Tonska, Ewa Bartnik, Rafal Ploski, Anna M. Kaminska
DOI: 10.1016/j.pjnns.2017.01.005
·
Neurol Neurochir Pol 2017;51(2):184-189.

open access

Vol 51, No 2 (2017)
Case reports
Submitted: 2016-08-08

Abstract

Introduction

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 report

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.

Conclusion

The presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.

Abstract

Introduction

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 report

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.

Conclusion

The presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.

Get Citation

Keywords

Migraine, Familial hemiplegic migraine, Calcium channel, CACNA1A

About this article
Title

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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 51, No 2 (2017)

Pages

184-189

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

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