Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study

Neurology

Volumn 58, Issue 5, 2002, Pages 808-810

  Pramstaller, P P ^a   Kunig G ^b   Leenders, K ^c   Kann, M ^d   Hedrich, K ^d   Vieregge, P ^d   Goetz, C G ^e   Klein, C ^d  

^a Gen Reg Hosp   (Italy)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY OF LÜBECK   (Germany)

^e RUSH MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BINDING AFFINITY; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DYSTONIA; EARLY DIAGNOSIS; EXON; FEMALE; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; MUSCLE ATROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARKINSONISM; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL;

EID: 0037066112     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.5.808     Document Type: Article

References (10)

1. Hemiparkinsonism as a late complication of hemiatrophy: A new syndrome
2. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
3. Association between early-onset Parkinson's disease and mutations in the parkin gene
4. The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
5. Complementary positron emission tomography studies of the striatal dopaminergic system in Parkinson's disease
6. Hemiparkinsonism with hemiatrophy
7. Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects
8. Metabolic topography of the hemiparkinsonism-hemiatrophy syndrome
9. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene
10. Parkinsonism, dystonia, and hemiatrophy