Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.
Identifieur interne : 000725 ( Ncbi/Checkpoint ); précédent : 000724; suivant : 000726Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.
Auteurs : Eric K. Richfield [États-Unis] ; Jean-Paul Vonsattel ; Marcy E. Macdonald ; Zhiqiang Sun ; Yun-Ping P. Deng ; Anton ReinerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Aged, Cell Survival (genetics), Corpus Striatum (pathology), Enkephalins (genetics), Female, Gene Expression (physiology), Globus Pallidus (pathology), Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Huntington Disease (pathology), Neurologic Examination, Neurons (pathology), Phenotype, Polymerase Chain Reaction, Protein Precursors (genetics), Substance P (genetics), Tachykinins (genetics), Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Enkephalins, Protein Precursors, Substance P, Tachykinins.
- diagnosis : Huntington Disease.
- genetics : Cell Survival, Huntington Disease, Trinucleotide Repeats.
- pathology : Corpus Striatum, Globus Pallidus, Huntington Disease, Neurons.
- physiology : Gene Expression.
- Aged, Female, Humans, Neurologic Examination, Phenotype, Polymerase Chain Reaction.
Abstract
Phenocopies of Huntington's disease (HD) are individuals with a family history, clinical symptoms, and occasionally pathological evidence of HD but without an expanded CAG repeat within the HD gene. We report on an HD phenocopy with selective loss of preprotachykinin (PPT) neurons, dysfunction of surviving PPT neurons, preservation of preproenkephalin (PPE) neurons within the striatum, and greater loss of immunohistochemical staining for substance P in terminals of striatal neurons projecting to the substantia nigra, than in those projecting to the internal pallidal segment. This case demonstrates the existence of one type of striatal lesion that may produce a clinical picture similar to HD, and raises the possibility of a rare hereditary disease that mimics HD.
PubMed: 11921119
Affiliations:
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Eric_Richfield@URMC.Rochester.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine and Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name></author><author><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E" last="Macdonald">Marcy E. Macdonald</name></author><author><name sortKey="Sun, Zhiqiang" sort="Sun, Zhiqiang" uniqKey="Sun Z" first="Zhiqiang" last="Sun">Zhiqiang Sun</name></author><author><name sortKey="Deng, Yun Ping P" sort="Deng, Yun Ping P" uniqKey="Deng Y" first="Yun-Ping P" last="Deng">Yun-Ping P. Deng</name></author><author><name sortKey="Reiner, Anton" sort="Reiner, Anton" uniqKey="Reiner A" first="Anton" last="Reiner">Anton Reiner</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:11921119</idno><idno type="pmid">11921119</idno><idno type="wicri:Area/PubMed/Corpus">003B26</idno><idno type="wicri:Area/PubMed/Curation">003B26</idno><idno type="wicri:Area/PubMed/Checkpoint">003939</idno><idno type="wicri:Area/Ncbi/Merge">000725</idno><idno type="wicri:Area/Ncbi/Curation">000725</idno><idno type="wicri:Area/Ncbi/Checkpoint">000725</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.</title><author><name sortKey="Richfield, Eric K" sort="Richfield, Eric K" uniqKey="Richfield E" first="Eric K" last="Richfield">Eric K. Richfield</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine and Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. Eric_Richfield@URMC.Rochester.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine and Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name></author><author><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E" last="Macdonald">Marcy E. Macdonald</name></author><author><name sortKey="Sun, Zhiqiang" sort="Sun, Zhiqiang" uniqKey="Sun Z" first="Zhiqiang" last="Sun">Zhiqiang Sun</name></author><author><name sortKey="Deng, Yun Ping P" sort="Deng, Yun Ping P" uniqKey="Deng Y" first="Yun-Ping P" last="Deng">Yun-Ping P. Deng</name></author><author><name sortKey="Reiner, Anton" sort="Reiner, Anton" uniqKey="Reiner A" first="Anton" last="Reiner">Anton Reiner</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Cell Survival (genetics)</term><term>Corpus Striatum (pathology)</term><term>Enkephalins (genetics)</term><term>Female</term><term>Gene Expression (physiology)</term><term>Globus Pallidus (pathology)</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Neurologic Examination</term><term>Neurons (pathology)</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Protein Precursors (genetics)</term><term>Substance P (genetics)</term><term>Tachykinins (genetics)</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Enkephalins</term><term>Protein Precursors</term><term>Substance P</term><term>Tachykinins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Survival</term><term>Huntington Disease</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Striatum</term><term>Globus Pallidus</term><term>Huntington Disease</term><term>Neurons</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Gene Expression</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Female</term><term>Humans</term><term>Neurologic Examination</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Phenocopies of Huntington's disease (HD) are individuals with a family history, clinical symptoms, and occasionally pathological evidence of HD but without an expanded CAG repeat within the HD gene. We report on an HD phenocopy with selective loss of preprotachykinin (PPT) neurons, dysfunction of surviving PPT neurons, preservation of preproenkephalin (PPE) neurons within the striatum, and greater loss of immunohistochemical staining for substance P in terminals of striatal neurons projecting to the substantia nigra, than in those projecting to the internal pallidal segment. This case demonstrates the existence of one type of striatal lesion that may produce a clinical picture similar to HD, and raises the possibility of a rare hereditary disease that mimics HD.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><noCountry><name sortKey="Deng, Yun Ping P" sort="Deng, Yun Ping P" uniqKey="Deng Y" first="Yun-Ping P" last="Deng">Yun-Ping P. Deng</name><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E" last="Macdonald">Marcy E. Macdonald</name><name sortKey="Reiner, Anton" sort="Reiner, Anton" uniqKey="Reiner A" first="Anton" last="Reiner">Anton Reiner</name><name sortKey="Sun, Zhiqiang" sort="Sun, Zhiqiang" uniqKey="Sun Z" first="Zhiqiang" last="Sun">Zhiqiang Sun</name><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Richfield, Eric K" sort="Richfield, Eric K" uniqKey="Richfield E" first="Eric K" last="Richfield">Eric K. Richfield</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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