Progressive supranuclear palsy and corticobasal degeneration: Lumping versus splitting
Identifieur interne : 003776 ( Main/Exploration ); précédent : 003775; suivant : 003777Progressive supranuclear palsy and corticobasal degeneration: Lumping versus splitting
Auteurs : Tomaso Scaravilli [Italie] ; Eduardo Tolosa [Espagne] ; Isidre Ferrer [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-08.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- CBD, Cerebral Cortex (metabolism), Cerebral Cortex (pathology), Comparative study, Corpus Striatum (metabolism), Corpus Striatum (pathology), Degeneration, Diagnosis, Differential, Haplotypes, Hippocampus (metabolism), Hippocampus (pathology), Humans, Microtubule-Associated Proteins (genetics), Nerve Degeneration (genetics), Nerve Degeneration (metabolism), Nerve Degeneration (pathology), Nervous system diseases, Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (metabolism), Neurodegenerative Diseases (pathology), Neurofibrillary Tangles (metabolism), PSP, Point Mutation (genetics), Pyramidal Tracts (pathology), Substantia Nigra (metabolism), Substantia Nigra (pathology), Subthalamic Nucleus (metabolism), Subthalamic Nucleus (pathology), Superior Colliculi (metabolism), Superior Colliculi (pathology), Supranuclear Palsy, Progressive (genetics), Supranuclear Palsy, Progressive (metabolism), Supranuclear Palsy, Progressive (pathology), neurodegen‐eration, tau Proteins (genetics), tau Proteins (metabolism), tau disorders.
- MESH :
- chemical , genetics : Microtubule-Associated Proteins, tau Proteins.
- genetics : Nerve Degeneration, Neurodegenerative Diseases, Point Mutation, Supranuclear Palsy, Progressive.
- metabolism : Cerebral Cortex, Corpus Striatum, Hippocampus, Nerve Degeneration, Neurodegenerative Diseases, Neurofibrillary Tangles, Substantia Nigra, Subthalamic Nucleus, Superior Colliculi, Supranuclear Palsy, Progressive, tau Proteins.
- pathology : Cerebral Cortex, Corpus Striatum, Hippocampus, Nerve Degeneration, Neurodegenerative Diseases, Pyramidal Tracts, Substantia Nigra, Subthalamic Nucleus, Superior Colliculi, Supranuclear Palsy, Progressive.
- Diagnosis, Differential, Haplotypes, Humans.
Abstract
Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are both sporadic disorders with tau pathology. Criteria have been defined that in most instances allow for adequate diagnosis of the two disorders both clinically and neuropathologically; however, overlap is not uncommon. For example, patients with PSP may present with severe unilateral apraxia and supranuclear gaze palsy can occur in CBD. Pathological overlap also occurs and pathologically “mixed” cases are encountered. Common to both these two tauopathies is that isoforms of four‐repeat tau due to splicing of exon 10 define the tau filamentous aggregates. This is in contrast to other tau disorders such as Pick's with three‐repeat tau aggregates. Additional evidence for a causal link between PSP and CBD is the finding that both disorders are homozygous for the H1 tau haplotype. Furthermore, in some families with parkinsonism linked to defined mutations of the tau gene (FTDP‐17), involved relatives have presented with PSP whereas others with the CBD phenotype. Although PSP and CBD frequently can be clearly separated clinically and pathologically, the degree of clinicopathological and genetic overlap is important and suggests that they represent different phenotypes of the same disorder, with differences occurring perhaps in relation to different genetic background. That PSP and CBD are distinct nosological entities occurring in patients with similar genetic predisposition cannot be ruled out. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20536
Affiliations:
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Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Institut de Neuropatologia, Servei Anatomia Patològica, Hospital de Bellvitge, Hospitalet de Llobregat</wicri:regionArea><wicri:noRegion>Hospitalet de Llobregat</wicri:noRegion></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="2005-08">2005-08</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">S12</biblScope><biblScope unit="supplement">S12</biblScope><biblScope unit="page" from="S21">S21</biblScope><biblScope unit="page" to="S28">S28</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3BAD8FFCD7D37414D82D222CF372403E83C140C3</idno><idno type="DOI">10.1002/mds.20536</idno><idno type="ArticleID">MDS20536</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CBD</term><term>Cerebral Cortex (metabolism)</term><term>Cerebral Cortex (pathology)</term><term>Comparative study</term><term>Corpus Striatum (metabolism)</term><term>Corpus Striatum (pathology)</term><term>Degeneration</term><term>Diagnosis, Differential</term><term>Haplotypes</term><term>Hippocampus (metabolism)</term><term>Hippocampus (pathology)</term><term>Humans</term><term>Microtubule-Associated Proteins (genetics)</term><term>Nerve Degeneration (genetics)</term><term>Nerve Degeneration (metabolism)</term><term>Nerve Degeneration (pathology)</term><term>Nervous system diseases</term><term>Neurodegenerative Diseases (genetics)</term><term>Neurodegenerative Diseases (metabolism)</term><term>Neurodegenerative Diseases (pathology)</term><term>Neurofibrillary Tangles (metabolism)</term><term>PSP</term><term>Point Mutation (genetics)</term><term>Pyramidal Tracts (pathology)</term><term>Substantia Nigra (metabolism)</term><term>Substantia Nigra (pathology)</term><term>Subthalamic Nucleus (metabolism)</term><term>Subthalamic Nucleus (pathology)</term><term>Superior Colliculi (metabolism)</term><term>Superior Colliculi (pathology)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Supranuclear Palsy, Progressive (metabolism)</term><term>Supranuclear Palsy, Progressive (pathology)</term><term>neurodegen‐eration</term><term>tau Proteins (genetics)</term><term>tau Proteins (metabolism)</term><term>tau disorders</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Microtubule-Associated Proteins</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Nerve Degeneration</term><term>Neurodegenerative Diseases</term><term>Point Mutation</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cerebral Cortex</term><term>Corpus Striatum</term><term>Hippocampus</term><term>Nerve Degeneration</term><term>Neurodegenerative Diseases</term><term>Neurofibrillary Tangles</term><term>Substantia Nigra</term><term>Subthalamic Nucleus</term><term>Superior Colliculi</term><term>Supranuclear Palsy, Progressive</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebral Cortex</term><term>Corpus Striatum</term><term>Hippocampus</term><term>Nerve Degeneration</term><term>Neurodegenerative Diseases</term><term>Pyramidal Tracts</term><term>Substantia Nigra</term><term>Subthalamic Nucleus</term><term>Superior Colliculi</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Diagnosis, Differential</term><term>Haplotypes</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dégénérescence</term><term>Etude comparative</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are both sporadic disorders with tau pathology. Criteria have been defined that in most instances allow for adequate diagnosis of the two disorders both clinically and neuropathologically; however, overlap is not uncommon. For example, patients with PSP may present with severe unilateral apraxia and supranuclear gaze palsy can occur in CBD. Pathological overlap also occurs and pathologically “mixed” cases are encountered. Common to both these two tauopathies is that isoforms of four‐repeat tau due to splicing of exon 10 define the tau filamentous aggregates. This is in contrast to other tau disorders such as Pick's with three‐repeat tau aggregates. Additional evidence for a causal link between PSP and CBD is the finding that both disorders are homozygous for the H1 tau haplotype. Furthermore, in some families with parkinsonism linked to defined mutations of the tau gene (FTDP‐17), involved relatives have presented with PSP whereas others with the CBD phenotype. Although PSP and CBD frequently can be clearly separated clinically and pathologically, the degree of clinicopathological and genetic overlap is important and suggests that they represent different phenotypes of the same disorder, with differences occurring perhaps in relation to different genetic background. That PSP and CBD are distinct nosological entities occurring in patients with similar genetic predisposition cannot be ruled out. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Espagne</li><li>Italie</li></country><region><li>Catalogne</li></region><settlement><li>Barcelone</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Scaravilli, Tomaso" sort="Scaravilli, Tomaso" uniqKey="Scaravilli T" first="Tomaso" last="Scaravilli">Tomaso Scaravilli</name></noRegion></country><country name="Espagne"><region name="Catalogne"><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></region><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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