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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| Veröffentlicht in: | Movement disorders 2006-08, Vol.21 (8), p.1232-1235 |
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| creator | 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 |
| description | 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 |
| doi_str_mv | 10.1002/mds.20890 |
| format | Article |
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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</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.20890</identifier><identifier>PMID: 16622859</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>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. 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Disord</addtitle><description>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</description><subject>Amino Acid Substitution</subject><subject>Biological and medical sciences</subject><subject>Dardarin</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Carrier Screening</subject><subject>Humans</subject><subject>Italy</subject><subject>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</subject><subject>LRRK2</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</subject><subject>Mutation</subject><subject>mutation screening</subject><subject>Neurology</subject><subject>Parkinson Disease - enzymology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Phenotype</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi0EokvhwB9AvgDikNYfa8c-Vi1dqt0F-oG4YTnORDUkTshkVfbfY9iFnhAny9Yz8848JuQ5Z0ecMXHc1XgkmLHsAZlxJXlhhCofkhkzRhWSG3VAniB-ZYxzxfVjcsC1FsIoOyNfzkf4voEUttSnmg63kPppOwDSvqGrq6uloAvBuL2m3WbyU-wTjYleTL6NPtEhv0CakN7F6ZZ-9OO3mLBPr5HWEcEjPCWPGt8iPNufh-TT-dub03fF6sPi4vRkVYS5EKxQKoSmKkGpWnJZz4NQVSO4tXliMHWwXHs9z9dKl1pbrqw3lZJynpEAopSH5NWu7zD2eR2cXBcxQNv6BP0GnTaGGcXFf0GRFamytBl8swPD2COO0LhhjJ0ft44z98u6y9bdb-uZfbFvuqk6qO_JveYMvNwDHoNvm9GnEPGey8PJnJu54x13F1vY_jvRrc-u_0QXu4qIE_z4W5F_wulSlsp9fr9wy7P15c1yvXSX8icS26Xh</recordid><startdate>200608</startdate><enddate>200608</enddate><creator>Marongiu, Roberta</creator><creator>Ghezzi, Daniele</creator><creator>Ialongo, Tamara</creator><creator>Soleti, Francesco</creator><creator>Elia, Antonio</creator><creator>Cavone, Stefania</creator><creator>Albanese, Alberto</creator><creator>Altavista, Maria Concetta</creator><creator>Barone, Paolo</creator><creator>Brusa, Livia</creator><creator>Cortelli, Pietro</creator><creator>Petrozzi, Lucia</creator><creator>Scaglione, Cesa</creator><creator>Stanzione, Paolo</creator><creator>Tinazzi, Michele</creator><creator>Zeviani, Massimo</creator><creator>Dallapiccola, Bruno</creator><creator>Bentivoglio, Anna Rita</creator><creator>Valente, Enza Maria</creator><creator>Garavaglia, Barbara</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>200608</creationdate><title>Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4220-55ccfb7e55d313d4c25bf2199011e8dc916a64990b67669159a8b5334199ce273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Amino Acid Substitution</topic><topic>Biological and medical sciences</topic><topic>Dardarin</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic Carrier Screening</topic><topic>Humans</topic><topic>Italy</topic><topic>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</topic><topic>LRRK2</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</topic><topic>Mutation</topic><topic>mutation screening</topic><topic>Neurology</topic><topic>Parkinson Disease - enzymology</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Phenotype</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Marongiu, Roberta</creatorcontrib><creatorcontrib>Ghezzi, Daniele</creatorcontrib><creatorcontrib>Ialongo, Tamara</creatorcontrib><creatorcontrib>Soleti, Francesco</creatorcontrib><creatorcontrib>Elia, Antonio</creatorcontrib><creatorcontrib>Cavone, Stefania</creatorcontrib><creatorcontrib>Albanese, Alberto</creatorcontrib><creatorcontrib>Altavista, Maria Concetta</creatorcontrib><creatorcontrib>Barone, Paolo</creatorcontrib><creatorcontrib>Brusa, Livia</creatorcontrib><creatorcontrib>Cortelli, Pietro</creatorcontrib><creatorcontrib>Petrozzi, Lucia</creatorcontrib><creatorcontrib>Scaglione, Cesa</creatorcontrib><creatorcontrib>Stanzione, Paolo</creatorcontrib><creatorcontrib>Tinazzi, Michele</creatorcontrib><creatorcontrib>Zeviani, Massimo</creatorcontrib><creatorcontrib>Dallapiccola, Bruno</creatorcontrib><creatorcontrib>Bentivoglio, Anna Rita</creatorcontrib><creatorcontrib>Valente, Enza Maria</creatorcontrib><creatorcontrib>Garavaglia, Barbara</creatorcontrib><creatorcontrib>Italian PD Study Group</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Marongiu, Roberta</au><au>Ghezzi, Daniele</au><au>Ialongo, Tamara</au><au>Soleti, Francesco</au><au>Elia, Antonio</au><au>Cavone, Stefania</au><au>Albanese, Alberto</au><au>Altavista, Maria Concetta</au><au>Barone, Paolo</au><au>Brusa, Livia</au><au>Cortelli, Pietro</au><au>Petrozzi, Lucia</au><au>Scaglione, Cesa</au><au>Stanzione, Paolo</au><au>Tinazzi, Michele</au><au>Zeviani, Massimo</au><au>Dallapiccola, Bruno</au><au>Bentivoglio, Anna Rita</au><au>Valente, Enza Maria</au><au>Garavaglia, Barbara</au><aucorp>Italian PD Study Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. 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| 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 |
| title | Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease |
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