Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania.
BACKGROUND
PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutations in the leucine-rich repeat kinase 2 (LRRK2) gene and G2019S is considered the most frequent mutation in the Caucasian population, in particular in the Southern Europe and Mediterranean countries.


OBJECTIVE
We assessed the frequency of the G2019S and R1441C/H/G mutations in 513 (311 M and 202 F) unrelated PD patients from Campania, in Southern Italy.


METHODS
Three hundreds and thirty-six patients presented a sporadic disease, and 177 had a familial history of PD or tremor. Three hundreds and eighty cases originated from the province of Naples. We compared our LRRK2 mutation carriers to idiopathic PD patients matched for recruiting center, gender, age and age at onset.


RESULTS
Thirteen patients (8 M and 5 F) carried the R1441C mutation and 4 (3 M and 1 F) the G2019S mutation, all in heterozygous state. All carriers originated from the province of Naples. No carriers of the R1441H or R1441G mutations were found. The LRRK2 mutation carriers were clinically similar to idiopathic PD patients. The R1441C and G2019S mutations are not rare causes of PD in Campania, especially in the province of Naples and among the familial cases, where the overall mutation prevalence is 6.8%.


CONCLUSIONS
The R1441C prevalence was higher than that of G2019S (2.5% vs 0.8%), underlining the importance of the geographical differencies in LRRK2 mutation frequency for molecular screening and genetic counseling of PD patients.
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Anna
A
De Rosa
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Giuseppe
G
De Michele
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Anna
A
Guacci
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Rosa
R
Carbone
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Maria
M
Lieto
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Silvio
S
Peluso
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Marina
M
Picillo
Center for Neurodegenerative Diseases, University of Salerno, Italy.
Paolo
P
Barone
Movement Disorder Center, Department of Neurology, Second University of Naples, Italy.
Fabrizio
F
Salemi
Movement Disorder Center, Department of Neurology, Second University of Naples, Italy.
Antonio
A
Laiso
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Francesco
F
Saccà
Movement Disorder Center, Department of Neurology, Second University of Naples, Italy.
Alessandro
A
Tessitore
Center for Neurodegenerative Diseases, University of Salerno, Italy.
Maria Teresa
MT
Pellecchia
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Vincenzo
V
Bonifati
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Chiara
C
Criscuolo
D000368:Aged; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; 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
LRRK2 gene mutations; Parkinson's Disease; campania; genetic screening