Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD.
Marongiu
Roberta
R
IRCCS CSS, Mendel Institute, Rome.
Ghezzi
Daniele
D
Ialongo
Tamara
T
Soleti
Francesco
F
Elia
Antonio
A
Cavone
Stefania
S
Albanese
Alberto
A
Altavista
Maria Concetta
MC
Barone
Paolo
P
Brusa
Livia
L
Cortelli
Pietro
P
Petrozzi
Lucia
L
Scaglione
Cesa
C
Stanzione
Paolo
P
Tinazzi
Michele
M
Zeviani
Massimo
M
Dallapiccola
Bruno
B
Bentivoglio
Anna Rita
AR
Valente
Enza Maria
EM
Garavaglia
Barbara
B
D019943:Amino Acid Substitution; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D007558:Italy; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases