Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation

Neurology

Volumn 68, Issue 19, 2007, Pages 1553-1554

  Lees, Andrew J ^a   Singleton, Andrew B ^b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA;

BABINSKI REFLEX; BEHAVIOR DISORDER; BRADYKINESIA; BRADYPHRENIA; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; CORPUS STRIATUM; DEATH; DYSKINESIA; DYSPHAGIA; EDITORIAL; EYE MOVEMENT DISORDER; GAZE PARALYSIS; GENE MUTATION; GLOBUS PALLIDUS; HUMAN; JORDAN; KUFOR RAKEB SYNDROME; LETHARGY; MENTAL INSTABILITY; MISSENSE MUTATION; MUSCLE RIGIDITY; MYOCLONUS; NEUROIMAGING; PARKINSONISM; PERSEVERATION; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSOCIAL WITHDRAWAL; PYRAMIDAL SIGN; SIBLING; SPASTICITY; SPEECH DISORDER; THOUGHT DISORDER; VISUAL HALLUCINATION; WALKING DIFFICULTY;

BASAL GANGLIA DISEASES; CHROMOSOMES, HUMAN, PAIR 1; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; LYSOSOMES; MUTATION, MISSENSE; PARKINSONIAN DISORDERS; PROTON-TRANSLOCATING ATPASES; PYRAMIDAL TRACTS; SYNDROME;

EID: 34248150925     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000265228.66664.f4     Document Type: Editorial

References (6)

1. Di Fonzo A, Chien HF, Socal M, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 2007;68:1557-1562.
2. Najim al-Din AS, 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.
3. Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. In: Movement disorders. 2005;1264-1271.
4. Ramirez A, Heimbach A, Grundemann J, 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.
5. Cuervo AM, Stefanis L, Fredenburg R, Lansbury PT, Sulzer D. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 2004;305:1292-1295.
6. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.