Distinct neurological disorders with ATP1A3 mutations
نویسندگان
چکیده
منابع مشابه
Distinct neurological disorders with ATP1A3 mutations.
Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Althoug...
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BACKGROUND ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss). CASE REPORT We report two cases with intermediate forms between RDP and AHC. Patient 1 initially presented with the AHC phenotype, but the RDP phenot...
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ژورنال
عنوان ژورنال: The Lancet Neurology
سال: 2014
ISSN: 1474-4422
DOI: 10.1016/s1474-4422(14)70011-0