Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
| Autor: | Hideki Mochizuki, Shin Nabatame, Masanori P. Takahashi, Ujiakira Nishiike, Tomoya Kubota, Manami Hama, Takao Takeshima, Ruka Sato |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Daughter Voltage-dependent calcium channel Aura Calcium channel media_common.quotation_subject General Medicine Biology medicine.disease 03 medical and health sciences 0302 clinical medicine Endocrinology Developmental Neuroscience Migraine ATP1A2 Internal medicine Pediatrics Perinatology and Child Health medicine P-type ATPase Neurology (clinical) 030217 neurology & neurosurgery Familial hemiplegic migraine media_common |
| Zdroj: | Brain and Development. 43:952-957 |
| ISSN: | 0387-7604 |
| Popis: | Background Familial hemiplegic migraine (FHM) is an inherited autosomal dominant disorder characterized by migraine with reversible hemiplegia. FHM1 is caused by variants in CACNA1A, encoding a P/Q type neuronal voltage-gated calcium channel α subunit, which is also associated with episodic ataxia type 2 (EA2). FHM2 is associated with ATP1A2, which codes for an Na+/K+-ATPase isoform 2 subunit. Case presentation We identified an FHM2 family, the mother and her daughter, with a novel variant in ATP1A2, p.Gly377Asp, located in a well-conserved P-type ATPase motif. Additionally, the mother harbored deletion in the CACNA1A, associated with EA2, but her daughter did not. The mother presented migraine with typical aura without motor deficit, whereas her daughter had migraine accompanied by recurrent motor deficit and altered consciousness. The additional CACNA1A deletion in the mother might serve as a modifier. Conclusion Our report emphasizes the importance of genetic analysis to diagnose neurological ion channel/transporter diseases. |
| Databáze: | OpenAIRE |
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