Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

Parkinsonism and Related Disorders

Volumn 17, Issue 2, 2011, Pages 135-138

  Crosiers, David ^a   Ceulemans, Berten ^b   Meeus, Bram ^c   Nuytemans, Karen ^c   Pals, Philippe ^d   Van Broeckhoven, Christine ^c   Cras, Patrick ^d   Theuns, Jessie ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

ATP13A2; Kufor Rakeb syndrome; PARK9; Parkinsonism

Indexed keywords

LEVODOPA; ROPINIROLE; TRIHEXYPHENIDYL;

AFGHANISTAN; ATHETOSIS; ATP13A2 GENE; BASAL GANGLION; BELGIUM; BRADYKINESIA; CASE REPORT; CAUDATE NUCLEUS; CHILD; CONSANGUINEOUS MARRIAGE; DEMENTIA; DYSKINESIA; DYSTONIA; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE DELETION; HAND TREMOR; HOMOZYGOSITY; HUMAN; KUFOR RAKEB SYNDROME; LETTER; MENTAL DEFICIENCY; MOTOR CONTROL; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARKINSONISM; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOSIS; PUTAMEN; RIGIDITY; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SCOLIOSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STOP CODON; VISUAL HALLUCINATION;

CHILD; DEMENTIA; DYSTONIA; FRAMESHIFT MUTATION; HUMANS; MALE; PARKINSONIAN DISORDERS; PEDIGREE; PROTON-TRANSLOCATING ATPASES; VIDEO RECORDING;

EID: 79551474118     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2010.10.011     Document Type: Letter

References (7)

1. Najim Al-Din A.S., Wriekat A., Mubaidin A., Dasouki M., Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994, 89:347-352.
2. Ramirez A., Heimbach A., Gründemann J., Stiller B., Hampshire D., Cid L.P., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006, 38:1184-1191.
3. Ning Y.P., Kanai K., Tomiyama H., Li Y., Funayama M., Yoshino H., et al. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology 2008, 70:1491-1493.
4. Di Fonzo A., Chien F., Socal M., Giraudo S., Tassorelli C., Iliceto G., et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 2007, 68:1557-1562.
5. Djarmati A., Hagenah J., Reetz K., Winkler S., Behrens M.I., Pawlack H., et al. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009, 24:2104-2111.
6. Schneider S.A., Paisan-Ruiz C., Quinn N.P., Lees A.J., Houlden H., Hardy J., et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010, 25:979-984.
7. 123I]-FP-CIT study group. Mov Disord 2000, 15:503-510.