Familial idiopathic strio‐pallido‐dentate calcifications with late onset extrapyramidal syndrome
Identifieur interne : 003788 ( Istex/Curation ); précédent : 003787; suivant : 003789Familial idiopathic strio‐pallido‐dentate calcifications with late onset extrapyramidal syndrome
Auteurs : P. Martinelli ; S. Giuliani ; M. Ippoliti ; Martinelli ; A. Sforza ; St. Ferrari [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 1993.
English descriptors
Abstract
A family with autosomal dominant inheritance of idiopathic strio‐pallidodentate calcifications and late onset of extrapyramidal symptoms is reported. Clinical features consisted of parkinsonism in one member and postural tremor in two. Depression and dysarthria were present in all cases. All symptomatic members showed a peculiar biochemical abnormality consisting of reduced 25‐OH vitamin D3 with normal levels of 1,25(OH)2 vitamin D3, suggesting an inborn error of Vitamin D metabolism. The biochemical, clinical, and genetic pattern of this family distinguishes this syndrome from the larger group of secondary familial basal ganglia calcifications.
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DOI: 10.1002/mds.870080221
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P. Martinelli<affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation><affiliation><mods:affiliation>Endorcrinology Department, Maggiore Hospital, Bologna</mods:affiliation><wicri:noCountry code="subField">Bologna</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial idiopathic strio‐pallido‐dentate calcifications with late onset extrapyramidal syndrome</title><author><name sortKey="Martinelli, P" sort="Martinelli, P" uniqKey="Martinelli P" first="P." last="Martinelli">P. Martinelli</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Giuliani, S" sort="Giuliani, S" uniqKey="Giuliani S" first="S." last="Giuliani">S. Giuliani</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Ippoliti, M" sort="Ippoliti, M" uniqKey="Ippoliti M" first="M." last="Ippoliti">M. Ippoliti</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Martinelli" sort="Martinelli" uniqKey="Martinelli" last="Martinelli">Martinelli</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Sforza, A" sort="Sforza, A" uniqKey="Sforza A" first="A." last="Sforza">A. 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Martinelli</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Giuliani, S" sort="Giuliani, S" uniqKey="Giuliani S" first="S." last="Giuliani">S. Giuliani</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Ippoliti, M" sort="Ippoliti, M" uniqKey="Ippoliti M" first="M." last="Ippoliti">M. Ippoliti</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Martinelli" sort="Martinelli" uniqKey="Martinelli" last="Martinelli">Martinelli</name><affiliation><mods:affiliation>Institute of Clinical Neurology, University of Bologna</mods:affiliation><wicri:noCountry code="subField">University of Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Sforza, A" sort="Sforza, A" uniqKey="Sforza A" first="A." last="Sforza">A. Sforza</name><affiliation><mods:affiliation>Endorcrinology Department, Maggiore Hospital, Bologna</mods:affiliation><wicri:noCountry code="subField">Bologna</wicri:noCountry></affiliation></author><author><name sortKey="Ferrari, St" sort="Ferrari, St" uniqKey="Ferrari S" first="St." last="Ferrari">St. Ferrari</name><affiliation wicri:level="1"><mods:affiliation>Institute of Biochemistry, University of Modena, Modena, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Biochemistry, University of Modena, Modena</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1993">1993</date><biblScope unit="vol">8</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="220">220</biblScope><biblScope unit="page" to="222">222</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0A612954BAAF64E3F8E4B1DF14207FA29197A1C6</idno><idno type="DOI">10.1002/mds.870080221</idno><idno type="ArticleID">MDS870080221</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Basal ganglia calcifications</term><term>Extrapyramidal syndrome</term><term>Vitamin D metabolism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A family with autosomal dominant inheritance of idiopathic strio‐pallidodentate calcifications and late onset of extrapyramidal symptoms is reported. Clinical features consisted of parkinsonism in one member and postural tremor in two. Depression and dysarthria were present in all cases. All symptomatic members showed a peculiar biochemical abnormality consisting of reduced 25‐OH vitamin D3 with normal levels of 1,25(OH)2 vitamin D3, suggesting an inborn error of Vitamin D metabolism. The biochemical, clinical, and genetic pattern of this family distinguishes this syndrome from the larger group of secondary familial basal ganglia calcifications.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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