Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early-onset Parkinson's disease [2]

Movement Disorders

Volumn 21, Issue 10, 2006, Pages 1789-1790

  Möller, Jens Carsten ^a   Leinweber, Barbara ^a   Rissling, Ida ^a   Oertel, Wolfgang Herman ^a   Bandmann, Oliver ^b   Schmidt, Hartmut H J ^c  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE RECEPTOR STIMULATING AGENT; LEVODOPA; WILSON DISEASE PROTEIN;

ADULT; AKINESIA; ALLELE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DRUG INDUCED DISEASE; DYSKINESIA; EXON; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GERMANY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PARKINSON DISEASE; PREVALENCE; PRIORITY JOURNAL; SIBLING;

ADENOSINE TRIPHOSPHATASES; ADULT; AGE FACTORS; AGED; ALLELES; CATION TRANSPORT PROTEINS; EXONS; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PHENOTYPE; SIBLINGS;

EID: 33750984553     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21066     Document Type: Article

References (5)

1. Brewer GJ. Neurologically presenting Wilson's disease: epidemiology, pathophysiology, and treatrnent. CNS Drugs 2005;19:185-192.
2. Uversky VN, Li J, Fink AL. Metal-triggered structural transformations, aggregation, and fibrillation of human alpha-synuclein: a possible molecular NK between Parkinson's disease and heavy metal exposure. J Biol Chem 2001;276:44284-44296.
3. Hughes AJ, Ben-Shlomo Y, Daniel SE, Lees AJ. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinicopathological study. Neurology 1992;42:1142-1146.
4. Gromadzka G, Schmidt HH, Genschel J, et al. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 2006;21:245-248.
5. Gasser T. Genetics of Parkinson's disease. Curr Opin Neurol 2005;18:363-369.