ATP1A3 mutations in infants: A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

Developmental Medicine and Child Neurology

Volumn 54, Issue 11, 2012, Pages 1065-1067

  Brashear, Allison ^a   Mink, Jonathan W ^b   Hill, Deborah F ^a   Boggs, Niki ^a   Mccall, W Vaughn ^a   Stacy, Mark A ^c   Snively, Beverly ^a   Light, Laney S ^a   Sweadner, Kathleen J ^d   Ozelius, Laurie J ^e   Morrison, Leslie ^f  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; FLUORODEOXYGLUCOSE F 18;

ARTICLE; ATAXIA; ATP1A3 GENE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; DIAGNOSTIC ERROR; DYSARTHRIA; DYSPHAGIA; DYSTONIA; FEMALE; FEVER; GENE; GENE MUTATION; HUMAN; HYPERSALIVATION; INFANT; LETHARGY; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUTISM; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARKINSONISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; ATAXIA; DEVELOPMENTAL DISABILITIES; DYSTONIC DISORDERS; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84867232035     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04421.x     Document Type: Article

References (11)

1. Brashear A, Butler IJ, Ozelius LJ, et al. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol 1998; 78: 335-9.
2. Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord 1996; 11: 151-6.
3. Brashear A, DeLeon D, Bressman SB, Thyagarajan D, Farlow MR, Dobyns WB. Rapid-onset dystonia-parkinsonism in a second family. Neurology 1997; 48: 1066-9.
4. +-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004; 43: 169-75.
5. Dobyns WB, Ozelius LJ, Kramer PL, et al. Rapid-onset dystonia-parkinsonism. Neurology 1993; 43: 2596-602.
6. 99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci 2008; 273: 148-51.
7. Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT. Rapid-onset dystonia-parkinsonism in a child with a novel ATP1A3 gene mutation. Neurology 2009; 73: 400-1.
8. Brashear A, Hill DF, Snively B, Sweadner KJ, Ozelius L. Denovo and recurrent mutations in ATP1A3 are common in rapid-onset dystonia-parkinsonism. Neurology 2010; 74(Suppl. 2): A204. [abstract].
9. Brashear A, Dobyns WB, de Carvalho AP, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007; 130: 828-35.
10. Exome Variant Server. NHLBI Exome Sequencing Project (ESP). [Internet.] Seattle, WA: NHLBI GO Exome Sequencing Project (cited 17 May 2012). Available from: http://evs.gs.washington.edu/EVS/.
11. +-ATPase variants. Neurology 2004; 62: 1857-61.