A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism

Parkinsonism and Related Disorders

Volumn 21, Issue 12, 2015, Pages 1473-1475

  Gupta, Harsh V ^a   Vengoechea, Jaime ^a   Sahaya, Kinshuk ^a   Virmani, Tuhin ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

ATP6AP2; Epilepsy; Intellectual disability; Parkinsonism

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ETIRACETAM; LAMOTRIGINE; UNCLASSIFIED DRUG; VACUOLAR ADENOSINE TRIPHOSPHATASE; VALPROIC ACID; ATP6AP2 PROTEIN, HUMAN; CELL SURFACE RECEPTOR; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; RNA SPLICING;

ADULT; AGRAPHESTHESIA; ASTEREOGNOSIS; ATP6AP2 GENE; BALANCE DISORDER; BRADYKINESIA; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; EPILEPSY; EXON; FAMILY HISTORY; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOTE; HUMAN; IDEOMOTOR APRAXIA; INTELLECTUAL IMPAIRMENT; INTRON; LETTER; MALE; MEDICAL HISTORY; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PRIORITY JOURNAL; RNA SPLICING; TREMOR; TWO DIMENSIONAL ECHOCARDIOGRAPHY; X CHROMOSOME LINKED DISORDER; ATROPHY; BRAIN CORTEX; CEREBELLUM; CORPUS CALLOSUM; GENETICS; PATHOLOGY; POINT MUTATION; PSYCHOMOTOR DISORDER; X LINKED MENTAL RETARDATION; YOUNG ADULT;

ADULT; ATROPHY; CEREBELLUM; CEREBRAL CORTEX; CORPUS CALLOSUM; EPILEPSY; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; NEUROIMAGING; PARKINSONIAN DISORDERS; POINT MUTATION; PSYCHOMOTOR DISORDERS; RECEPTORS, CELL SURFACE; RNA SPLICE SITES; VACUOLAR PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 84955685325     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.10.001     Document Type: Letter

References (5)

1. American Association of Intellectual and Developmental Disabilities (AAIDD), Definition of Intellectual Disability, available at:. http://aaidd.org/intellectual-disability/definition.
2. Korvatska O., Strand N.S., Berndt J.D., Strovas T., Chen D.H., Leverenz J.B., et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum. Mol. Genet. 2013 Aug 15, 22(16):3259-3268. Epub 2013 Apr 16.
3. Ramser J., Abidi F.E., Burckle C.A., Lenski C., Toriello H., Wen G., et al. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum. Mol. Genet. 2005 Apr 15, 14(8):1019-1027. Epub 2005 Mar 3.
4. Poorkaj P., Raskind W.H., Leverenz J.B., Matsushita M., Zabetian C.P., Samii A., et al. A novel X-linked four-repeat tauopathy with parkinsonism and spasticity. Mov. Disord. 2010 Jul 30, 25(10):1409-1417.
5. Hedera P., Alvarado D., Beydoun A., Fink J.K. Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. Ann. Neurol. 2002 Jan, 51(1):45-50.