Parkin analysis in early onset Parkinson's disease.
We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype-phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients.
Sironi
Francesca
F
Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.
Primignani
Paola
P
Zini
Michela
M
Tunesi
Sara
S
Ruffmann
Claudio
C
Ricca
Sara
S
Brambilla
Tiziana
T
Antonini
Angelo
A
Tesei
Silvana
S
Canesi
Margherita
M
Zecchinelli
Anna
A
Mariani
Claudio
C
Meucci
Nicoletta
N
Sacilotto
Giorgio
G
Cilia
Roberto
R
Isaias
Ioannis U
IU
Garavaglia
Barbara
B
Ghezzi
Daniele
D
Travi
Maurizio
M
Decarli
Adriano
A
Coviello
Domenico A
DA
Pezzoli
Gianni
G
Goldwurm
Stefano
S
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010641:Phenotype; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein