Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

R Marongiu; Daniele Ghezzi; Tamara Ialongo; Francesco Soleti; Antonio Emanuele Elia; S Cavone; Alberto Albanese; Maria Concetta Altavista; Paolo Barone; L Brusa; Pietro Cortelli; L Petrozzi; Cesa Scaglione; P Stanzione; Michele Tinazzi; M Zeviani; B Dallapiccola; Anna Rita Bentivoglio; Enza Maria Valente; B Garavaglia

doi:10.1002/mds.20890

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

R Marongiu
, Daniele Ghezzi
, Tamara Ialongo
, Francesco Soleti
, Antonio Emanuele Elia
, S Cavone
, Alberto Albanese
, Maria Concetta Altavista
, Paolo Barone
, L Brusa
, Pietro Cortelli
, L Petrozzi
, Cesa Scaglione
, P Stanzione
, Michele Tinazzi
, M Zeviani
, B Dallapiccola
, Anna Rita Bentivoglio
, Enza Maria Valente
, B Garavaglia

Research output: Contribution to journal › Article

21 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1232-1235
Number of pages	4
Journal	Movement Disorders
Volume	21
DOIs	https://doi.org/10.1002/mds.20890
Publication status	Published - 2006

Keywords

Amino Acid Substitution
Female
Gene Frequency
Heterozygote Detection
Humans
Italy
Male
Mutation
Parkinson Disease
Phenotype
Protein-Serine-Threonine Kinases

Access to Document

10.1002/mds.20890

Cite this

Marongiu, R., Ghezzi, D., Ialongo, T., Soleti, F., Elia, A. E., Cavone, S., Albanese, A., Altavista, M. C., Barone, P., Brusa, L., Cortelli, P., Petrozzi, L., Scaglione, C., Stanzione, P., Tinazzi, M., Zeviani, M., Dallapiccola, B., Bentivoglio, A. R., Valente, E. M., & Garavaglia, B. (2006). Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Movement Disorders, 21, 1232-1235. https://doi.org/10.1002/mds.20890

@article{02c7d09530ba4ebb85a19cc6cb5237c8,

title = "Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease",

abstract = "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.",

keywords = "Amino Acid Substitution, Female, Gene Frequency, Heterozygote Detection, Humans, Italy, Male, Mutation, Parkinson Disease, Phenotype, Protein-Serine-Threonine Kinases, Amino Acid Substitution, Female, Gene Frequency, Heterozygote Detection, Humans, Italy, Male, Mutation, Parkinson Disease, Phenotype, Protein-Serine-Threonine Kinases",

author = "R Marongiu and Daniele Ghezzi and Tamara Ialongo and Francesco Soleti and Elia, \{Antonio Emanuele\} and S Cavone and Alberto Albanese and Altavista, \{Maria Concetta\} and Paolo Barone and L Brusa and Pietro Cortelli and L Petrozzi and Cesa Scaglione and P Stanzione and Michele Tinazzi and M Zeviani and B Dallapiccola and Bentivoglio, \{Anna Rita\} and Valente, \{Enza Maria\} and B Garavaglia",

year = "2006",

doi = "10.1002/mds.20890",

language = "English",

volume = "21",

pages = "1232--1235",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

}

Marongiu, R, Ghezzi, D, Ialongo, T, Soleti, F, Elia, AE, Cavone, S, Albanese, A, Altavista, MC, Barone, P, Brusa, L, Cortelli, P, Petrozzi, L, Scaglione, C, Stanzione, P, Tinazzi, M, Zeviani, M, Dallapiccola, B, Bentivoglio, AR, Valente, EM & Garavaglia, B 2006, 'Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease', Movement Disorders, vol. 21, pp. 1232-1235. https://doi.org/10.1002/mds.20890

TY - JOUR

T1 - Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

AU - Marongiu, R

AU - Ghezzi, Daniele

AU - Ialongo, Tamara

AU - Soleti, Francesco

AU - Elia, Antonio Emanuele

AU - Cavone, S

AU - Albanese, Alberto

AU - Altavista, Maria Concetta

AU - Barone, Paolo

AU - Brusa, L

AU - Cortelli, Pietro

AU - Petrozzi, L

AU - Scaglione, Cesa

AU - Stanzione, P

AU - Tinazzi, Michele

AU - Zeviani, M

AU - Dallapiccola, B

AU - Bentivoglio, Anna Rita

AU - Valente, Enza Maria

AU - Garavaglia, B

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

KW - Amino Acid Substitution

KW - Female

KW - Gene Frequency

KW - Heterozygote Detection

KW - Humans

KW - Italy

KW - Male

KW - Mutation

KW - Parkinson Disease

KW - Phenotype

KW - Protein-Serine-Threonine Kinases

KW - Amino Acid Substitution

KW - Female

KW - Gene Frequency

KW - Heterozygote Detection

KW - Humans

KW - Italy

KW - Male

KW - Mutation

KW - Parkinson Disease

KW - Phenotype

KW - Protein-Serine-Threonine Kinases

UR - http://hdl.handle.net/10807/27325

U2 - 10.1002/mds.20890

DO - 10.1002/mds.20890

M3 - Article

SN - 0885-3185

VL - 21

SP - 1232

EP - 1235

JO - Movement Disorders

JF - Movement Disorders

ER -

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this