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

Risultato della ricerca: Contributo in rivista › Articolo in rivista

21 Citazioni (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.

Lingua originale	English
pagine (da-a)	1232-1235
Numero di pagine	4
Rivista	Movement Disorders
Volume	21
DOI	https://doi.org/10.1002/mds.20890
Stato di pubblicazione	Pubblicato - 2006

Keywords

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

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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

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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.",

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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, pagg. 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

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