Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.
Identifieur interne : 004D41 ( Ncbi/Checkpoint ); précédent : 004D40; suivant : 004D42Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.
Auteurs : M W Becher [États-Unis] ; D C Rubinsztein ; J. Leggo ; M V Wagster ; O C Stine ; N G Ranen ; M L Franz ; M H Abbott ; M. Sherr ; J C Macmillan ; L. Barron ; M. Porteous ; P S Harper ; C A RossSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1997.
Descripteurs français
- Wicri :
- geographic : États-Unis.
English descriptors
- KwdEn :
- Adult, African Continental Ancestry Group (genetics), Atrophy, Brain (pathology), Brain (physiopathology), Brain Diseases (diagnosis), Brain Diseases (ethnology), Brain Diseases (genetics), Brain Diseases (physiopathology), Child, Chromosomes, Human, Pair 12 (genetics), Dentate Gyrus (pathology), Diagnosis, Differential, European Continental Ancestry Group (genetics), Female, Globus Pallidus (pathology), Great Britain, Humans, Infant, Male, Middle Aged, Movement Disorders (diagnosis), Movement Disorders (ethnology), Movement Disorders (genetics), Movement Disorders (physiopathology), Nerve Degeneration (genetics), Pedigree, Phenotype, Red Nucleus (pathology), Trinucleotide Repeats, United States.
- MESH :
- geographic : Great Britain, United States.
- diagnosis : Brain Diseases, Movement Disorders.
- ethnology : Brain Diseases, Movement Disorders.
- genetics : African Continental Ancestry Group, Brain Diseases, Chromosomes, Human, Pair 12, European Continental Ancestry Group, Movement Disorders, Nerve Degeneration.
- pathology : Brain, Dentate Gyrus, Globus Pallidus, Red Nucleus.
- physiopathology : Brain, Brain Diseases, Movement Disorders.
- Adult, Atrophy, Child, Diagnosis, Differential, Female, Humans, Infant, Male, Middle Aged, Pedigree, Phenotype, Trinucleotide Repeats.
Abstract
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that clinically overlaps with Huntington's disease (HD) and manifests combinations of chorea, myoclonus, seizures, ataxia, and dementia. DRPLA is caused by a CAG triplet repeat (CTG-B37) expansion coding for polyglutamine on chromosome 12 and exhibits the genetic phenomenon of anticipation. This neurodegenerative disease has only rarely been reported in non-Japanese pedigrees, and there are only a few neuropathological studies in genetically confirmed patients. We report 10 cases of DRPLA from two North American and two British pedigrees in which CTG-B37 expansions have been demonstrated within each kindred (54-83 repeats), individually in 8 of the 10 cases, and describe the neuropathological findings in 4 cases. Members of DRPLA kindreds have a wide range of clinical phenotypes and markedly variable ages at onset. The neuropathological spectrum is centered around the cerebellifugal and pallidofugal systems, but neurodegenerative changes can be found in many nuclei, tracts, and systems. Evidence of CTG-B37 triplet repeat expansion should be sought in HD-like cases that are negative for expanded triplet repeats within the HD IT15 gene or in autopsy cases with degeneration of the dentatorubral or pallidoluysian systems.
DOI: 10.1002/mds.870120408
PubMed: 9251070
Affiliations:
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Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.</title><author><name sortKey="Becher, M W" sort="Becher, M W" uniqKey="Becher M" first="M W" last="Becher">M W Becher</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology (Neuropathology Division), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology (Neuropathology Division), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196</wicri:regionArea><wicri:noRegion>Maryland 21205-2196</wicri:noRegion></affiliation></author><author><name sortKey="Rubinsztein, D C" sort="Rubinsztein, D C" uniqKey="Rubinsztein D" first="D C" last="Rubinsztein">D C Rubinsztein</name></author><author><name sortKey="Leggo, J" sort="Leggo, J" uniqKey="Leggo J" first="J" last="Leggo">J. Leggo</name></author><author><name sortKey="Wagster, M V" sort="Wagster, M V" uniqKey="Wagster M" first="M V" last="Wagster">M V Wagster</name></author><author><name sortKey="Stine, O C" sort="Stine, O C" uniqKey="Stine O" first="O C" last="Stine">O C Stine</name></author><author><name sortKey="Ranen, N G" sort="Ranen, N G" uniqKey="Ranen N" first="N G" last="Ranen">N G Ranen</name></author><author><name sortKey="Franz, M L" sort="Franz, M L" uniqKey="Franz M" first="M L" last="Franz">M L Franz</name></author><author><name sortKey="Abbott, M H" sort="Abbott, M H" uniqKey="Abbott M" first="M H" last="Abbott">M H Abbott</name></author><author><name sortKey="Sherr, M" sort="Sherr, M" uniqKey="Sherr M" first="M" last="Sherr">M. Sherr</name></author><author><name sortKey="Macmillan, J C" sort="Macmillan, J C" uniqKey="Macmillan J" first="J C" last="Macmillan">J C Macmillan</name></author><author><name sortKey="Barron, L" sort="Barron, L" uniqKey="Barron L" first="L" last="Barron">L. 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Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.</title><author><name sortKey="Becher, M W" sort="Becher, M W" uniqKey="Becher M" first="M W" last="Becher">M W Becher</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology (Neuropathology Division), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology (Neuropathology Division), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196</wicri:regionArea><wicri:noRegion>Maryland 21205-2196</wicri:noRegion></affiliation></author><author><name sortKey="Rubinsztein, D C" sort="Rubinsztein, D C" uniqKey="Rubinsztein D" first="D C" last="Rubinsztein">D C Rubinsztein</name></author><author><name sortKey="Leggo, J" sort="Leggo, J" uniqKey="Leggo J" first="J" last="Leggo">J. Leggo</name></author><author><name sortKey="Wagster, M V" sort="Wagster, M V" uniqKey="Wagster M" first="M V" last="Wagster">M V Wagster</name></author><author><name sortKey="Stine, O C" sort="Stine, O C" uniqKey="Stine O" first="O C" last="Stine">O C Stine</name></author><author><name sortKey="Ranen, N G" sort="Ranen, N G" uniqKey="Ranen N" first="N G" last="Ranen">N G Ranen</name></author><author><name sortKey="Franz, M L" sort="Franz, M L" uniqKey="Franz M" first="M L" last="Franz">M L Franz</name></author><author><name sortKey="Abbott, M H" sort="Abbott, M H" uniqKey="Abbott M" first="M H" last="Abbott">M H Abbott</name></author><author><name sortKey="Sherr, M" sort="Sherr, M" uniqKey="Sherr M" first="M" last="Sherr">M. Sherr</name></author><author><name sortKey="Macmillan, J C" sort="Macmillan, J C" uniqKey="Macmillan J" first="J C" last="Macmillan">J C Macmillan</name></author><author><name sortKey="Barron, L" sort="Barron, L" uniqKey="Barron L" first="L" last="Barron">L. Barron</name></author><author><name sortKey="Porteous, M" sort="Porteous, M" uniqKey="Porteous M" first="M" last="Porteous">M. Porteous</name></author><author><name sortKey="Harper, P S" sort="Harper, P S" uniqKey="Harper P" first="P S" last="Harper">P S Harper</name></author><author><name sortKey="Ross, C A" sort="Ross, C A" uniqKey="Ross C" first="C A" last="Ross">C A Ross</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="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>African Continental Ancestry Group (genetics)</term><term>Atrophy</term><term>Brain (pathology)</term><term>Brain (physiopathology)</term><term>Brain Diseases (diagnosis)</term><term>Brain Diseases (ethnology)</term><term>Brain Diseases (genetics)</term><term>Brain Diseases (physiopathology)</term><term>Child</term><term>Chromosomes, Human, Pair 12 (genetics)</term><term>Dentate Gyrus (pathology)</term><term>Diagnosis, Differential</term><term>European Continental Ancestry Group (genetics)</term><term>Female</term><term>Globus Pallidus (pathology)</term><term>Great Britain</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (diagnosis)</term><term>Movement Disorders (ethnology)</term><term>Movement Disorders (genetics)</term><term>Movement Disorders (physiopathology)</term><term>Nerve Degeneration (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Red Nucleus (pathology)</term><term>Trinucleotide Repeats</term><term>United States</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Great Britain</term><term>United States</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Brain Diseases</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Brain Diseases</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Continental Ancestry Group</term><term>Brain Diseases</term><term>Chromosomes, Human, Pair 12</term><term>European Continental Ancestry Group</term><term>Movement Disorders</term><term>Nerve Degeneration</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Dentate Gyrus</term><term>Globus Pallidus</term><term>Red Nucleus</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Brain</term><term>Brain Diseases</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Child</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>États-Unis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that clinically overlaps with Huntington's disease (HD) and manifests combinations of chorea, myoclonus, seizures, ataxia, and dementia. DRPLA is caused by a CAG triplet repeat (CTG-B37) expansion coding for polyglutamine on chromosome 12 and exhibits the genetic phenomenon of anticipation. This neurodegenerative disease has only rarely been reported in non-Japanese pedigrees, and there are only a few neuropathological studies in genetically confirmed patients. We report 10 cases of DRPLA from two North American and two British pedigrees in which CTG-B37 expansions have been demonstrated within each kindred (54-83 repeats), individually in 8 of the 10 cases, and describe the neuropathological findings in 4 cases. Members of DRPLA kindreds have a wide range of clinical phenotypes and markedly variable ages at onset. The neuropathological spectrum is centered around the cerebellifugal and pallidofugal systems, but neurodegenerative changes can be found in many nuclei, tracts, and systems. Evidence of CTG-B37 triplet repeat expansion should be sought in HD-like cases that are negative for expanded triplet repeats within the HD IT15 gene or in autopsy cases with degeneration of the dentatorubral or pallidoluysian systems.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Abbott, M H" sort="Abbott, M H" uniqKey="Abbott M" first="M H" last="Abbott">M H Abbott</name><name sortKey="Barron, L" sort="Barron, L" uniqKey="Barron L" first="L" last="Barron">L. Barron</name><name sortKey="Franz, M L" sort="Franz, M L" uniqKey="Franz M" first="M L" last="Franz">M L Franz</name><name sortKey="Harper, P S" sort="Harper, P S" uniqKey="Harper P" first="P S" last="Harper">P S Harper</name><name sortKey="Leggo, J" sort="Leggo, J" uniqKey="Leggo J" first="J" last="Leggo">J. Leggo</name><name sortKey="Macmillan, J C" sort="Macmillan, J C" uniqKey="Macmillan J" first="J C" last="Macmillan">J C Macmillan</name><name sortKey="Porteous, M" sort="Porteous, M" uniqKey="Porteous M" first="M" last="Porteous">M. Porteous</name><name sortKey="Ranen, N G" sort="Ranen, N G" uniqKey="Ranen N" first="N G" last="Ranen">N G Ranen</name><name sortKey="Ross, C A" sort="Ross, C A" uniqKey="Ross C" first="C A" last="Ross">C A Ross</name><name sortKey="Rubinsztein, D C" sort="Rubinsztein, D C" uniqKey="Rubinsztein D" first="D C" last="Rubinsztein">D C Rubinsztein</name><name sortKey="Sherr, M" sort="Sherr, M" uniqKey="Sherr M" first="M" last="Sherr">M. Sherr</name><name sortKey="Stine, O C" sort="Stine, O C" uniqKey="Stine O" first="O C" last="Stine">O C Stine</name><name sortKey="Wagster, M V" sort="Wagster, M V" uniqKey="Wagster M" first="M V" last="Wagster">M V Wagster</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Becher, M W" sort="Becher, M W" uniqKey="Becher M" first="M W" last="Becher">M W Becher</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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