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Relapsing encephalopathy with cerebellar ataxia related to an ATP 1A3 mutation
Author(s) -
Dard Rodolphe,
Mignot Cyril,
Durr Alexandra,
Lesca Gaetan,
Sanlaville Damien,
Roze Emmanuel,
Mochel Fanny
Publication year - 2015
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12927
Subject(s) - cerebellar ataxia , ataxia , dystonia , encephalopathy , parkinsonism , medicine , cerebellum , atrophy , pathology , endocrinology , psychiatry , disease
ATP 1A3, the gene encoding the α 3‐subunit of the Na + /K + ‐ ATP ase 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 ATP 1A3 ‐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, ATP 1A3 ‐related disorders might be seen as a phenotypic continuum.