Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome
Identifieur interne : 000315 ( Main/Exploration ); précédent : 000314; suivant : 000316Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome
Auteurs : B. Borroni ; S. Goldwurm [Italie] ; C. Cerini ; M. Cosseddu ; N. Meucci [Italie] ; C. Mariani [Italie] ; G. Pezzoli [Italie] ; A. PadovaniSource :
- European Journal of Neurology [ 1351-5101 ] ; 2011-01.
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Abstract
Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.
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DOI: 10.1111/j.1468-1331.2010.03081.x
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Mariani</name></author><author><name sortKey="Pezzoli, G" sort="Pezzoli, G" uniqKey="Pezzoli G" first="G." last="Pezzoli">G. Pezzoli</name></author><author><name sortKey="Padovani, A" sort="Padovani, A" uniqKey="Padovani A" first="A." last="Padovani">A. 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Cosseddu</name><affiliation><wicri:noCountry code="subField">Brescia</wicri:noCountry></affiliation></author><author><name sortKey="Meucci, N" sort="Meucci, N" uniqKey="Meucci N" first="N." last="Meucci">N. Meucci</name><affiliation wicri:level="3"><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName><wicri:orgArea>Parkinson Institute, Istituti Clinici di Perfezionamento</wicri:orgArea></affiliation></author><author><name sortKey="Mariani, C" sort="Mariani, C" uniqKey="Mariani C" first="C." last="Mariani">C. Mariani</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology Unit, Ospedale Sacco, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Pezzoli, G" sort="Pezzoli, G" uniqKey="Pezzoli G" first="G." last="Pezzoli">G. Pezzoli</name><affiliation wicri:level="3"><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName><wicri:orgArea>Parkinson Institute, Istituti Clinici di Perfezionamento</wicri:orgArea></affiliation></author><author><name sortKey="Padovani, A" sort="Padovani, A" uniqKey="Padovani A" first="A." last="Padovani">A. Padovani</name><affiliation><wicri:noCountry code="subField">Brescia</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-01">2011-01</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="195">195</biblScope><biblScope unit="page" to="197">197</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">ECEBB49095C3E370F1CB7427A538F6F394482C23</idno><idno type="DOI">10.1111/j.1468-1331.2010.03081.x</idno><idno type="ArticleID">ENE3081</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>cognitive disorders and dementia</term><term>frontotemporal dementia</term><term>movement disorders</term><term>neurodegenerative</term><term>neurological disorders</term><term>progressive supranuclear palsy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Lombardie</li></region><settlement><li>Milan</li></settlement></list><tree><noCountry><name sortKey="Borroni, B" sort="Borroni, B" uniqKey="Borroni B" first="B." last="Borroni">B. Borroni</name><name sortKey="Cerini, C" sort="Cerini, C" uniqKey="Cerini C" first="C." last="Cerini">C. 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