Clinical genetics of familial progressive supranuclear palsy
Identifieur interne : 003D50 ( Main/Merge ); précédent : 003D49; suivant : 003D51Clinical genetics of familial progressive supranuclear palsy
Auteurs : A. Rojo ; R. S. Pernaute ; A. Fonta N ; P. G. Rui Z ; J. Honnorat ; T. Lynch ; S. Chin ; I. Gonzalo ; A. Ra Bano ; A. Marti Nez ; S. Daniel ; P. Pramsteller [Autriche] ; H. Morris ; N. Wood ; A. Lees ; C. Tabernero ; T. Nyggard ; A. C. Jackson [Canada] ; A. Hanson [Canada] ; J. G. De Ye BenesSource :
- Brain [ 0006-8950 ] ; 1999-07.
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- KwdEn :
Abstract
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease.
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DOI: 10.1093/brain/122.7.1233
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Rojo</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Pernaute, R S" sort="Pernaute, R S" uniqKey="Pernaute R" first="R. S." last="Pernaute">R. S. Pernaute</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Fonta N, A" sort="Fonta N, A" uniqKey="Fonta N A" first="A." last="Fonta N">A. Fonta N</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Rui Z, P G" sort="Rui Z, P G" uniqKey="Rui Z P" first="P. G." last="Rui Z">P. G. Rui Z</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Honnorat, J" sort="Honnorat, J" uniqKey="Honnorat J" first="J." last="Honnorat">J. 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Marti Nez</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Daniel, S" sort="Daniel, S" uniqKey="Daniel S" first="S." last="Daniel">S. Daniel</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Pramsteller, P" sort="Pramsteller, P" uniqKey="Pramsteller P" first="P." last="Pramsteller">P. Pramsteller</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, University of Insbruck</wicri:regionArea><wicri:noRegion>University of Insbruck</wicri:noRegion></affiliation></author><author><name sortKey="Morris, H" sort="Morris, H" uniqKey="Morris H" first="H." last="Morris">H. Morris</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Wood, N" sort="Wood, N" uniqKey="Wood N" first="N." last="Wood">N. Wood</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Lees, A" sort="Lees, A" uniqKey="Lees A" first="A." last="Lees">A. Lees</name><affiliation></affiliation><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Tabernero, C" sort="Tabernero, C" uniqKey="Tabernero C" first="C." last="Tabernero">C. Tabernero</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Nyggard, T" sort="Nyggard, T" uniqKey="Nyggard T" first="T." last="Nyggard">T. Nyggard</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Jackson, A C" sort="Jackson, A C" uniqKey="Jackson A" first="A. C." last="Jackson">A. C. Jackson</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology, Kingston General Hospital, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Hanson, A" sort="Hanson, A" uniqKey="Hanson A" first="A." last="Hanson">A. Hanson</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology, Kingston General Hospital, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="De Ye Benes, J G" sort="De Ye Benes, J G" uniqKey="De Ye Benes J" first="J. G." last="De Ye Benes">J. G. De Ye Benes</name><affiliation></affiliation><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Brain</title><title level="j" type="abbrev">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1999-07">1999-07</date><biblScope unit="volume">122</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1233">1233</biblScope><biblScope unit="page" to="1245">1245</biblScope></imprint><idno type="ISSN">0006-8950</idno></series><idno type="istex">4567DD58007B10737CA033670776935468631527</idno><idno type="DOI">10.1093/brain/122.7.1233</idno><idno type="local">1221233</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0006-8950</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PSP = progressive supranuclear palsy</term><term>Steele–Richardson–Olzsewski syndrome</term><term>akinetic rigid syndrome</term><term>dementia</term><term>genetics</term><term>progressive supranuclear palsy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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