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: Rodolphe Dard, Cyril Mignot, Alexandra Durr, Gaetan Lesca, Damien Sanlaville, Emmanuel Roze, Fanny Mochel
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 57 Issue 12 Pg. 1183-6 (Dec 2015) ISSN: 1469-8749 [Electronic] England
• PMID: 26400718 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Mac Keith Press.

Chemical References

• ATP1A3 protein, human
• Sodium-Potassium-Exchanging ATPase

Topics

• Adult
• Cerebellar Ataxia (etiology, genetics)
• Consciousness Disorders (etiology, genetics)
• Deglutition Disorders (etiology, genetics)
• Female
• Fever (complications)
• Humans
• Muscle Hypotonia (etiology, genetics)
• Mutation
• Phenotype
• Recurrence
• Sodium-Potassium-Exchanging ATPase (genetics)
• Speech Disorders (etiology, genetics)
• Syndrome