ParkinsonCanadaV1, Istex, Corpus, bibRecord, 002918

Clinical genetics of familial progressive supranuclear palsy

Identifieur interne : 002918 ( Istex/Corpus ); précédent : 002917; suivant : 002919

Clinical 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 ; H. Morris ; N. Wood ; A. Lees ; C. Tabernero ; T. Nyggard ; A. C. Jackson ; A. Hanson ; J. G. De Ye Benes

Source :

Brain [ 0006-8950 ] ; 1999-07.

RBID : ISTEX:4567DD58007B10737CA033670776935468631527

English descriptors

KwdEn :
- PSP = progressive supranuclear palsy, Steele–Richardson–Olzsewski syndrome, akinetic rigid syndrome, dementia, genetics, progressive supranuclear palsy.

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.

Url:

https://api-v5.istex.fr/document/4567DD58007B10737CA033670776935468631527/fulltext/pdf

DOI: 10.1093/brain/122.7.1233

Links to Exploration step

ISTEX:4567DD58007B10737CA033670776935468631527

Le document en format XML

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<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>
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Department of Neurology, Fundación Jiménez Díaz, Universidad Autónoma de Madrid,</aff>
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Banco de Tejidos para Investigaciones Neurológicas, Madrid, </aff>
<aff id="AFF3"><label>3</label>
Departamento de Neurología, Hospital del Insalud de Segovia, Spain, </aff>
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Neurologie B, Hôpital Neurologique, Lyon, France, </aff>
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Departments of Neurology and Pathology , Medical College of Physicians and Surgeons, Columbia University, New York, USA, </aff>
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Parkinson's Disease Society Brain Research Centre, </aff>
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National Hospital for Neurology and Neurosurgery, London, UK, </aff>
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Department of Neurology, University of Insbruck, Austria and </aff>
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Department of Neurology, Kingston General Hospital, Ontario, Canada</aff>
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<author-notes><corresp>Justo García de Yébenes MD, Servicio de Neurología, Fundación Jiménez Díaz Avda de Reyes Católicos 2, Madrid 28040, Spain E-mail: <ext-link xlink:href="jgyebenes@fjd.es" ext-link-type="email">jgyebenes@fjd.es</ext-link>
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<abstract 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.</abstract>
<note type="author-notes">Justo García de Yébenes MD, Servicio de Neurología, Fundación Jiménez Díaz Avda de Reyes Católicos 2, Madrid 28040, Spain E-mail: jgyebenes@fjd.es</note>
<subject lang="en"><genre>KWD</genre>
<topic>progressive supranuclear palsy</topic>
<topic>Steele–Richardson–Olzsewski syndrome</topic>
<topic>genetics</topic>
<topic>akinetic rigid syndrome</topic>
<topic>dementia</topic>
</subject>
<subject lang="en"><genre>ABR</genre>
<topic>PSP = progressive supranuclear palsy</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Brain</title>
</titleInfo>
<titleInfo type="abbreviated"><title>Brain</title>
</titleInfo>
<genre type="journal">journal</genre>
<identifier type="ISSN">0006-8950</identifier>
<identifier type="eISSN">1460-2156</identifier>
<identifier type="PublisherID">brainj</identifier>
<identifier type="PublisherID-hwp">brain</identifier>
<identifier type="PublisherID-nlm-ta">Brain</identifier>
<part><date>1999</date>
<detail type="volume"><caption>vol.</caption>
<number>122</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>7</number>
</detail>
<extent unit="pages"><start>1233</start>
<end>1245</end>
</extent>
</part>
</relatedItem>
<identifier type="istex">4567DD58007B10737CA033670776935468631527</identifier>
<identifier type="DOI">10.1093/brain/122.7.1233</identifier>
<identifier type="local">1221233</identifier>
<accessCondition type="use and reproduction" contentType="copyright">© Oxford University Press 1999</accessCondition>
<recordInfo><recordContentSource>OUP</recordContentSource>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>

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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Clinical genetics of familial progressive supranuclear palsy

Clinical genetics of familial progressive supranuclear palsy

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