1. Relapsing encephalopathy with cerebellar ataxia related to anATP1A3mutation
- Author
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Emmanuel Roze, Rodolphe Dard, Gaetan Lesca, Damien Sanlaville, Alexandra Durr, Cyril Mignot, and Fanny Mochel
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Pes cavus ,Cerebellar Ataxia ,Fever ,Encephalopathy ,Biology ,Speech Disorders ,Atrophy ,Developmental Neuroscience ,Recurrence ,ATP1A3 ,medicine ,Humans ,Cerebellar ataxia ,Alternating hemiplegia of childhood ,Syndrome ,medicine.disease ,Phenotype ,Mutation ,Pediatrics, Perinatology and Child Health ,Consciousness Disorders ,Muscle Hypotonia ,Female ,Sensorineural hearing loss ,Neurology (clinical) ,Sodium-Potassium-Exchanging ATPase ,medicine.symptom ,Deglutition Disorders ,Neuroscience - Abstract
ATP1A3, the gene encoding the α3-subunit of the Na(+) /K(+) -ATPase pump, has been involved in four clinical neurological entities: (1) alternating hemiplegia of childhood (AHC); (2) rapid-onset dystonia parkinsonism (RDP); (3) CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; and (4) early infantile epileptic encephalopathy. Here, we report on a 34-year-old female presenting with a new ATP1A3-related entity involving a relapsing encephalopathy characterized by recurrent episodes of cerebellar ataxia and altered consciousness during febrile illnesses. The term RECA is suggested - relapsing encephalopathy with cerebellar ataxia. The phenotype of this patient, resembling mitochondrial oxidative phosphorylation defects, emphasizes the possible role of brain energy deficiency in patients with ATP1A3 mutations. Rather than multiple overlapping syndromes, ATP1A3-related disorders might be seen as a phenotypic continuum.
- Published
- 2015
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