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...

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Published in:Movement disorders 2006-08, Vol.21 (8), p.1232-1235
Main Authors: Marongiu, Roberta, Ghezzi, Daniele, Ialongo, Tamara, Soleti, Francesco, Elia, Antonio, Cavone, Stefania, Albanese, Alberto, Altavista, Maria Concetta, Barone, Paolo, Brusa, Livia, Cortelli, Pietro, Petrozzi, Lucia, Scaglione, Cesa, Stanzione, Paolo, Tinazzi, Michele, Zeviani, Massimo, Dallapiccola, Bruno, Bentivoglio, Anna Rita, Valente, Enza Maria, Garavaglia, Barbara
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Biological and medical sciences
Dardarin
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Gene Frequency
Genetic Carrier Screening
Humans
Italy
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
LRRK2
Male
Medical sciences
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Mutation
mutation screening
Neurology
Parkinson Disease - enzymology
Parkinson Disease - genetics
Parkinson's disease
Phenotype
Protein-Serine-Threonine Kinases - genetics
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Summary: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. © 2006 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20890