PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission.
Criscuolo
Chiara
C
Department of Neurological Sciences, Federico II University, Naples, Italy.
Volpe
Giampiero
G
De Rosa
Anna
A
Varrone
Andrea
A
Marongiu
Roberta
R
Mancini
Pietro
P
Salvatore
Elena
E
Dallapiccola
Bruno
B
Filla
Alessandro
A
Valente
Enza Maria
EM
De Michele
Giuseppe
G
D017668:Age of Onset; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase