De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
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منابع مشابه
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
BACKGROUND Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss ...
متن کاملAsystole in alternating hemiplegia with de novo ATP1A3 mutation.
Alternating hemiplegia is a rare condition presenting with episodes of hemiplegia, epileptic seizures and, at times, dysautonomic attacks. De novo ATP1A3 (Na(+)/K(+) ATPase subunit) mutations were recently found to be the most common cause. We report a patient with alternating hemiplegia with de novo ATP1A3 mutation who experienced new-onset episodes of collapse in early adulthood unrelated to ...
متن کاملTreatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation
BACKGROUND Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypoth...
متن کاملATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients
Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort. We performed whole-exome sequencing on three trios and three unrelated patients, and screened additional 41 typical cases and 100 controls by PCR-Sanger sequencing. ATP1A3 mutations were detected...
متن کاملAlternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders
Alternating hemiplegia of childhood (AHC) was first described as a distinctive disease in 1971 [1]. The disease is characterised by early-onset episodes of hemiplegia, dystonia, numerous paroxysmal symptoms, and developmental impairment [2]. Almost all cases of AHC are sporadic. To identify de-novo mutations associated with this disease 40 clinically well-characterized patients were recruited f...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2016
ISSN: 1471-2377
DOI: 10.1186/s12883-016-0680-6