Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism.
Identifieur interne : 000340 ( PubMed/Corpus ); précédent : 000339; suivant : 000341Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism.
Auteurs : J. Jankovic ; J Kirkpatrick ; K Blomquist ; P Langlais ; E BirdSource :
- Neurology [ 0028-3878 ] ; 1985.
English descriptors
- KwdEn :
- Aged, Basal Ganglia Diseases (pathology), Brain (metabolism), Brain (pathology), Dopamine (metabolism), Globus Pallidus (pathology), Humans, Male, Pantothenate Kinase-Associated Neurodegeneration (metabolism), Pantothenate Kinase-Associated Neurodegeneration (pathology), Parkinson Disease (genetics), Parkinson Disease (pathology), Substantia Nigra (pathology).
- MESH :
- chemical , metabolism : Dopamine.
- genetics : Parkinson Disease.
- metabolism : Brain, Pantothenate Kinase-Associated Neurodegeneration.
- pathology : Basal Ganglia Diseases, Brain, Globus Pallidus, Pantothenate Kinase-Associated Neurodegeneration, Parkinson Disease, Substantia Nigra.
- Aged, Humans, Male.
Abstract
We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.
PubMed: 3969211
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Jankovic</name></author><author><name sortKey="Kirkpatrick, J B" sort="Kirkpatrick, J B" uniqKey="Kirkpatrick J" first="J" last="Kirkpatrick">J Kirkpatrick</name></author><author><name sortKey="Blomquist, K A" sort="Blomquist, K A" uniqKey="Blomquist K" first="K" last="Blomquist">K Blomquist</name></author><author><name sortKey="Langlais, P J" sort="Langlais, P J" uniqKey="Langlais P" first="P" last="Langlais">P Langlais</name></author><author><name sortKey="Bird, E D" sort="Bird, E D" uniqKey="Bird E" first="E" last="Bird">E Bird</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1985">1985</date><idno type="RBID">pubmed:3969211</idno><idno type="pmid">3969211</idno><idno type="wicri:Area/PubMed/Corpus">000340</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism.</title><author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">J. Jankovic</name></author><author><name sortKey="Kirkpatrick, J B" sort="Kirkpatrick, J B" uniqKey="Kirkpatrick J" first="J" last="Kirkpatrick">J Kirkpatrick</name></author><author><name sortKey="Blomquist, K A" sort="Blomquist, K A" uniqKey="Blomquist K" first="K" last="Blomquist">K Blomquist</name></author><author><name sortKey="Langlais, P J" sort="Langlais, P J" uniqKey="Langlais P" first="P" last="Langlais">P Langlais</name></author><author><name sortKey="Bird, E D" sort="Bird, E D" uniqKey="Bird E" first="E" last="Bird">E Bird</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="1985" type="published">1985</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Basal Ganglia Diseases (pathology)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Dopamine (metabolism)</term><term>Globus Pallidus (pathology)</term><term>Humans</term><term>Male</term><term>Pantothenate Kinase-Associated Neurodegeneration (metabolism)</term><term>Pantothenate Kinase-Associated Neurodegeneration (pathology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Substantia Nigra (pathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Dopamine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Basal Ganglia Diseases</term><term>Brain</term><term>Globus Pallidus</term><term>Pantothenate Kinase-Associated Neurodegeneration</term><term>Parkinson Disease</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">3969211</PMID><DateCreated><Year>1985</Year><Month>03</Month><Day>06</Day></DateCreated><DateCompleted><Year>1985</Year><Month>03</Month><Day>06</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0028-3878</ISSN><JournalIssue CitedMedium="Print"><Volume>35</Volume><Issue>2</Issue><PubDate><Year>1985</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Neurology</Title><ISOAbbreviation>Neurology</ISOAbbreviation></Journal><ArticleTitle>Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism.</ArticleTitle><Pagination><MedlinePgn>227-34</MedlinePgn></Pagination><Abstract><AbstractText>We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Kirkpatrick</LastName><ForeName>J B</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Blomquist</LastName><ForeName>K A</ForeName><Initials>KA</Initials></Author><Author ValidYN="Y"><LastName>Langlais</LastName><ForeName>P J</ForeName><Initials>PJ</Initials></Author><Author ValidYN="Y"><LastName>Bird</LastName><ForeName>E D</ForeName><Initials>ED</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>MH/NS 31862</GrantID><Acronym>MH</Acronym><Agency>NIMH NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Neurology</MedlineTA><NlmUniqueID>0401060</NlmUniqueID><ISSNLinking>0028-3878</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>VTD58H1Z2X</RegistryNumber><NameOfSubstance UI="D004298">Dopamine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001480">Basal Ganglia Diseases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004298">Dopamine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005917">Globus Pallidus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006211">Pantothenate Kinase-Associated Neurodegeneration</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013378">Substantia Nigra</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1985</Year><Month>2</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1985</Year><Month>2</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1985</Year><Month>2</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">3969211</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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