title: Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
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.
authors.affiliation: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.
authors.forename: Rodolphe
authors.initials: R
authors.lastname: Dard
authors.affiliation: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.affiliation: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.|Inserm, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, UPMC University Paris, Paris, France.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.affiliation: Department of Medical Genetics, Lyon University Hospital, Lyon, France.
authors.forename: Gaetan
authors.initials: G
authors.lastname: Lesca
authors.affiliation: Department of Medical Genetics, Lyon University Hospital, Lyon, France.
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.affiliation: Inserm, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, UPMC University Paris, Paris, France.|Department of Neurology, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.affiliation: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.|Inserm, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, UPMC University Paris, Paris, France.|Bioclinic and Genetic Unit of Neurometabolic Diseases, Pitié-Salpêtrière Hospital, Paris, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Mochel
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000209:etiology / Q000235:genetics*; D003244:Consciousness Disorders / Q000209:etiology / Q000235:genetics; D003680:Deglutition Disorders / Q000209:etiology / Q000235:genetics; D005260:Female; D005334:Fever / Q000150:complications*; D006801:Humans; D009123:Muscle Hypotonia / Q000209:etiology / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D012008:Recurrence; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D013064:Speech Disorders / Q000209:etiology / Q000235:genetics; D013577:Syndrome
chemical_list: C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase