Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy.
Identifieur interne : 001E13 ( Ncbi/Checkpoint ); précédent : 001E12; suivant : 001E14Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy.
Auteurs : David R. Williams [Australie] ; Janice L. Holton ; Kate Strand ; Tamas Revesz ; Andrew J. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Aged, Brain (metabolism), Brain (pathology), Fatal Outcome, Female, Gait Disorders, Neurologic (classification), Gait Disorders, Neurologic (pathology), Gait Disorders, Neurologic (physiopathology), Humans, Immunohistochemistry, Lewy Bodies (pathology), Male, Middle Aged, Movement Disorders (classification), Movement Disorders (pathology), Movement Disorders (physiopathology), Phenotype, Retrospective Studies, Supranuclear Palsy, Progressive (classification), Supranuclear Palsy, Progressive (pathology), Supranuclear Palsy, Progressive (physiopathology), alpha-Synuclein (metabolism).
- MESH :
- chemical , metabolism : alpha-Synuclein.
- classification : Gait Disorders, Neurologic, Movement Disorders, Supranuclear Palsy, Progressive.
- metabolism : Brain.
- pathology : Brain, Gait Disorders, Neurologic, Lewy Bodies, Movement Disorders, Supranuclear Palsy, Progressive.
- physiopathology : Gait Disorders, Neurologic, Movement Disorders, Supranuclear Palsy, Progressive.
- Adult, Aged, Fatal Outcome, Female, Humans, Immunohistochemistry, Male, Middle Aged, Phenotype, Retrospective Studies.
Abstract
The clinical syndrome of pure akinesia has most often been associated with progressive supranuclear palsy (PSP) and is characterized by difficulty initiating gait and "freezing" during walking, writing and speaking. Similar syndromes have been described under the rubrics of primary progressive freezing gait and primary gait ignition failure. We investigated the specificity of the clinical syndrome of pure akinesia with gait freezing (PAGF) for PSP-tau pathology. Among 749 patients archived at the QSBB, only 7 fulfilled proposed diagnostic criteria of: gradual onset of freezing of gait or speech; absent limb rigidity and tremor; no sustained response to levodopa; and no dementia or ophthalmoplegia in the first 5 years of disease. In these cases detailed pathological examination was performed. PSP was the pathological diagnosis in six patients, and Parkinson's disease (PD) in the seventh. As defined, this syndrome had a positive predictive value of 86% for PSP-tau pathology. In the cases with PSP there were no additional features of coexistent vascular or PD and the median PSP-tau score was 3, reflecting relative mild tau load. The clinical syndrome of PAGF appears to have a high specificity for PSP-tau pathology. This relatively uncommon presentation of PSP-tau pathology has less severe tau accumulation than in the more common, "classic" PSP clinical phenotype: Richardson's disease.
DOI: 10.1002/mds.21698
PubMed: 17712855
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy.</title><author><name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R" last="Williams">David R. Williams</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Medicine (Neurosciences), Monash University (Alfred Hospital Campus), Melbourne, Australia. david.williams@med.monash.edu.au</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Medicine (Neurosciences), Monash University (Alfred Hospital Campus), Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Strand, Kate" sort="Strand, Kate" uniqKey="Strand K" first="Kate" last="Strand">Kate Strand</name></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21698</idno><idno type="RBID">pubmed:17712855</idno><idno type="pmid">17712855</idno><idno type="wicri:Area/PubMed/Corpus">002546</idno><idno type="wicri:Area/PubMed/Curation">002546</idno><idno type="wicri:Area/PubMed/Checkpoint">002608</idno><idno type="wicri:Area/Ncbi/Merge">001E13</idno><idno type="wicri:Area/Ncbi/Curation">001E13</idno><idno type="wicri:Area/Ncbi/Checkpoint">001E13</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy.</title><author><name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R" last="Williams">David R. Williams</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Medicine (Neurosciences), Monash University (Alfred Hospital Campus), Melbourne, Australia. david.williams@med.monash.edu.au</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Medicine (Neurosciences), Monash University (Alfred Hospital Campus), Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Strand, Kate" sort="Strand, Kate" uniqKey="Strand K" first="Kate" last="Strand">Kate Strand</name></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</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="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Fatal Outcome</term><term>Female</term><term>Gait Disorders, Neurologic (classification)</term><term>Gait Disorders, Neurologic (pathology)</term><term>Gait Disorders, Neurologic (physiopathology)</term><term>Humans</term><term>Immunohistochemistry</term><term>Lewy Bodies (pathology)</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (classification)</term><term>Movement Disorders (pathology)</term><term>Movement Disorders (physiopathology)</term><term>Phenotype</term><term>Retrospective Studies</term><term>Supranuclear Palsy, Progressive (classification)</term><term>Supranuclear Palsy, Progressive (pathology)</term><term>Supranuclear Palsy, Progressive (physiopathology)</term><term>alpha-Synuclein (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Movement Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Gait Disorders, Neurologic</term><term>Lewy Bodies</term><term>Movement Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Movement Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term><term>Immunohistochemistry</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Retrospective Studies</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The clinical syndrome of pure akinesia has most often been associated with progressive supranuclear palsy (PSP) and is characterized by difficulty initiating gait and "freezing" during walking, writing and speaking. Similar syndromes have been described under the rubrics of primary progressive freezing gait and primary gait ignition failure. We investigated the specificity of the clinical syndrome of pure akinesia with gait freezing (PAGF) for PSP-tau pathology. Among 749 patients archived at the QSBB, only 7 fulfilled proposed diagnostic criteria of: gradual onset of freezing of gait or speech; absent limb rigidity and tremor; no sustained response to levodopa; and no dementia or ophthalmoplegia in the first 5 years of disease. In these cases detailed pathological examination was performed. PSP was the pathological diagnosis in six patients, and Parkinson's disease (PD) in the seventh. As defined, this syndrome had a positive predictive value of 86% for PSP-tau pathology. In the cases with PSP there were no additional features of coexistent vascular or PD and the median PSP-tau score was 3, reflecting relative mild tau load. The clinical syndrome of PAGF appears to have a high specificity for PSP-tau pathology. This relatively uncommon presentation of PSP-tau pathology has less severe tau accumulation than in the more common, "classic" PSP clinical phenotype: Richardson's disease.</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><name sortKey="Strand, Kate" sort="Strand, Kate" uniqKey="Strand K" first="Kate" last="Strand">Kate Strand</name></noCountry><country name="Australie"><noRegion><name sortKey="Williams, David R" sort="Williams, David R" uniqKey="Williams D" first="David R" last="Williams">David R. Williams</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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