Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report.

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Tytuł:: Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report.
Autorzy:: Luan H; Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Zhang L; Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Zhang S; Department of Pediatrics, the Second Hospital of Jilin University, Changchun, Jilin, China.
Zhang M; Department of Pediatrics, the Second Hospital of Jilin University, Changchun, Jilin, China.
Źródło:: Medicine [Medicine (Baltimore)] 2021 Dec 23; Vol. 100 (51), pp. e28141.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
MeSH Terms:: Calcium Channels/*genetics
Cerebellar Ataxia/*diagnosis
Cerebellar Ataxia/*drug therapy
Migraine Disorders/*diagnosis
Migraine Disorders/*drug therapy
Cerebellar Ataxia/genetics ; Female ; Flunarizine/therapeutic use ; Humans ; Migraine Disorders/genetics ; Migraine with Aura ; Pedigree
References:: Cephalalgia, Headache Classification Committee of the International Headache Society (IHS). The International Classification of Headache Disorders. 3rd edition2018;38: 1–211.
Russell MB, Ducros A. A sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol 2011;10:457–70.
Sutherland HG, Albury CL, Griffiths LR. Advances in genetics of migraine. J Headache Pain 2019;20:72.
Indelicato E, Boesch S. From genotype to phenotype: expanding the clinical spectrum of CACNA1A variants in the era of next generation sequencing. Front Neurol 2021;12:639994.
Angelini C, Van Gils J, Bigourdan A, et al. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. Eur J Med Genet 2019;62:103530.
Stea A, Tomlinson WJ, Soong TW, et al. Localization and functional properties of a rat brain alpha 1A calcium channel reflect similarities to neuronal Q- and P-type channels. Proc Natl Acad Sci USA 1994;91:10576–80.
Pietrobon D. CaV2.1 channelopathies. Pflugers Arch 2010;460:375–93.
Striessnig J. Voltage-gated Ca2+-channel 1-subunit de novo missense mutations: gain or loss of function-implications for potential therapies. Front Synaptic Neurosci 2021;13:634760.
Carreño O, García-Silva MT, García-Campos Ó, et al. Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation. Headache 2011;51:1542–6.
Gandini MA, Souza IA, Ferron L, et al. The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function. Mol Brain 2021;14:27.
Grant Information:: 20180414049GH Department of Science and Technology of Jilin Province; 20200404133YY Department of Science and Technology of Jilin Province; 2015216 Norman Bethune Program of Jilin University; 2020SCZ47 Jilin Provincial Special Program for Health Research Talents
Substance Nomenclature:: 0 (CACNA1A protein, human)
0 (Calcium Channels)
R7PLA2DM0J (Flunarizine)
SCR Disease Name:: Hemiplegic migraine, familial type 1
Entry Date(s):: Date Created: 20211223 Date Completed: 20220217 Latest Revision: 20230103
Update Code:: 20240104
PubMed Central ID:: PMC8702007
DOI:: 10.1097/MD.0000000000028141
PMID:: 34941060
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Rationale: Familial hemiplegic migraine (FHM) is a rare, autosomal dominant migraine with aura. CACNA1A encodes the α1A subunit of P/Q-type voltage-gated calcium channels, and its mutations have been associated with a wide spectrum of episodic and chronic neurological disorders, including FHM type 1 (FHM1).
Patient Concerns: A Chinese girl and some of her relatives who presented with hemiplegia with or without migraine were found to carry a novel heterozygous missense variant, I1379F, in CACNA1A by whole-exome sequencing. The variant consegregated with the disease and was predicted to be pathogenic.
Diagnosis: The patient was diagnosed with FHM1 clinically and genetically.
Interventions: Prophylactic therapy with flunarizine 5 mg daily was prescribed to the patient.
Outcomes: Therapy with flunarizine was terminated after a few weeks. The intensity of the attacks was the same as before.
Lessons: This case indicates that FHM should be considered when a patient manifests with episodic hemiplegia without migraine. In addition, genetic testing is an indispensable method to identify atypical attacks of hemiplegic migraine.
Competing Interests: The authors have no conflicts of interests to disclose.
(Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

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