Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

Developmental Medicine and Child Neurology

Volumn 57, Issue 12, 2015, Pages 1183-1186

  Dard, Rodolphe ^a   Mignot, Cyril ^a   Durr, Alexandra ^a,b   Lesca, Gaetan ^c   Sanlaville, Damien ^c   Roze, Emmanuel ^a,b   Mochel, Fanny ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); POTASSIUM SODIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE SUBUNIT ALPHA 3; UNCLASSIFIED DRUG; ATP1A3 PROTEIN, HUMAN;

ACUTE BRAIN DISEASE; ADULT; ANGER; ARTICLE; ATAXIA; BRAIN DISEASE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM DISEASE; DYSARTHRIA; DYSPHAGIA; EVOKED AUDITORY RESPONSE; FEMALE; FEVER; GENE MUTATION; GENE SEQUENCE; GENERALIZED DYSTONIA; GENETIC VARIABILITY; HUMAN; INBORN ERROR OF METABOLISM; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE PHOSPHORYLATION; PATHOGENICITY; PRIORITY JOURNAL; PYRAMIDAL SIGN; RELAPSE; SPEECH DISORDER; COMPLICATION; CONSCIOUSNESS DISORDERS; DEGLUTITION DISORDERS; GENETICS; MUTATION; PHENOTYPE; RECURRENT DISEASE; SPEECH DISORDERS; SYNDROME;

ADULT; CEREBELLAR ATAXIA; CONSCIOUSNESS DISORDERS; DEGLUTITION DISORDERS; FEMALE; FEVER; HUMANS; MUSCLE HYPOTONIA; MUTATION; PHENOTYPE; RECURRENCE; SODIUM-POTASSIUM-EXCHANGING ATPASE; SPEECH DISORDERS; SYNDROME;

EID: 84955199958     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12927     Document Type: Article

References (16)

1. +-ATPase and H+-ATPase ion pumps. Nat Rev Mol Cell Biol 2011; 12: 60-70.
2. Paciorkowski AR, McDaniel SS, Jansen LA, et al. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia 2015; 56: 422-30.
3. Heinzen EL, Arzimanoglou A, Brashear A, et al. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurol 2014; 13: 503-14.
4. Demos MK, van Karnebeek CD, Ross CJ, et al. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis 2014; 9: 15.
5. Brashear A, Dobyns WB, de Carvalho AguiarP, et al. The phenotypic spectrum of rapid-onset Dystonia-Parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007; 130: 828-35.
6. Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism. CAPOS and beyond. Pediatr Neurol 2015; 52: 56-64.
7. Rosewich H, Ohlenbusch A, Huppke P, et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology 2014; 82: 945-55.
8. Sasaki M, Ishii A, Saito Y, et al. Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology 2014; 82: 482-90.
9. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-81.
10. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-9.
11. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11: 361-2.
12. Brashear A, Mink JW, Hill DF, et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol 2012; 54: 1065-7.
13. Sasaki M, Sakuma H, Fukushima A, Yamada K, Ohnishi T, Matsuda H. Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood. Brain Dev 2009; 31: 20-6.
14. +-ATPase α3 missense mutant mice. PLoS ONE 2013; 8: e60141.
15. Ulate-Campos A, Fons C, Artuch R, et al. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. Pediatr Neurol 2014; 50: 377-9.
16. Roubergue A, Philibert B, Gautier A, et al. Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. JIMD Rep 2015; 15: 7-12.