Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Identifieur interne : 000880 ( Main/Exploration ); précédent : 000879; suivant : 000881Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Auteurs : José Luiz Pedroso [Brésil] ; Marcondes C. França ; Pedro Braga-Neto ; Anelyssa D'Abreu ; Maria Luiza Saraiva-Pereira ; Jonas A. Saute ; Hélio A. Teive ; Paulo Caramelli ; Laura Bannach Jardim ; Iscia Lopes-Cendes ; Orlando Graziani P. BarsottiniSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Brain (pathology), Cognition Disorders (etiology), Humans, Machado-Joseph Disease (genetics), Machado-Joseph Disease (pathology), Machado-Joseph Disease (physiopathology), Mental Disorders (etiology), Movement Disorders (etiology), Muscle Cramp (etiology), Nerve Tissue Proteins (genetics), Nuclear Proteins (genetics), Nutrition Disorders (etiology), Pain (etiology), Peripheral Nervous System Diseases (etiology), Repressor Proteins (genetics), Sleep Disorders (etiology).
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins.
- etiology : Cognition Disorders, Mental Disorders, Movement Disorders, Muscle Cramp, Nutrition Disorders, Pain, Peripheral Nervous System Diseases, Sleep Disorders.
- genetics : Machado-Joseph Disease.
- pathology : Brain, Machado-Joseph Disease.
- physiopathology : Machado-Joseph Disease.
- Humans.
Abstract
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.
DOI: 10.1002/mds.25513
PubMed: 23775899
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000880
- to stream PubMed, to step Curation: 000880
- to stream PubMed, to step Checkpoint: 000894
- to stream Ncbi, to step Merge: 003C03
- to stream Ncbi, to step Curation: 003C03
- to stream Ncbi, to step Checkpoint: 003C03
- to stream Main, to step Merge: 000880
- to stream Main, to step Curation: 000880
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Nonmotor and extracerebellar features in Machado-Joseph disease: a review.</title><author><name sortKey="Pedroso, Jose Luiz" sort="Pedroso, Jose Luiz" uniqKey="Pedroso J" first="José Luiz" last="Pedroso">José Luiz Pedroso</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. jlpedroso.neuro@gmail.com</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Universidade Federal de São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Franca, Marcondes C" sort="Franca, Marcondes C" uniqKey="Franca M" first="Marcondes C" last="França">Marcondes C. França</name></author><author><name sortKey="Braga Neto, Pedro" sort="Braga Neto, Pedro" uniqKey="Braga Neto P" first="Pedro" last="Braga-Neto">Pedro Braga-Neto</name></author><author><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name></author><author><name sortKey="Saraiva Pereira, Maria Luiza" sort="Saraiva Pereira, Maria Luiza" uniqKey="Saraiva Pereira M" first="Maria Luiza" last="Saraiva-Pereira">Maria Luiza Saraiva-Pereira</name></author><author><name sortKey="Saute, Jonas A" sort="Saute, Jonas A" uniqKey="Saute J" first="Jonas A" last="Saute">Jonas A. Saute</name></author><author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Hélio A" last="Teive">Hélio A. Teive</name></author><author><name sortKey="Caramelli, Paulo" sort="Caramelli, Paulo" uniqKey="Caramelli P" first="Paulo" last="Caramelli">Paulo Caramelli</name></author><author><name sortKey="Jardim, Laura Bannach" sort="Jardim, Laura Bannach" uniqKey="Jardim L" first="Laura Bannach" last="Jardim">Laura Bannach Jardim</name></author><author><name sortKey="Lopes Cendes, Iscia" sort="Lopes Cendes, Iscia" uniqKey="Lopes Cendes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name></author><author><name sortKey="Barsottini, Orlando Graziani P" sort="Barsottini, Orlando Graziani P" uniqKey="Barsottini O" first="Orlando Graziani P" last="Barsottini">Orlando Graziani P. Barsottini</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23775899</idno><idno type="pmid">23775899</idno><idno type="doi">10.1002/mds.25513</idno><idno type="wicri:Area/PubMed/Corpus">000880</idno><idno type="wicri:Area/PubMed/Curation">000880</idno><idno type="wicri:Area/PubMed/Checkpoint">000894</idno><idno type="wicri:Area/Ncbi/Merge">003C03</idno><idno type="wicri:Area/Ncbi/Curation">003C03</idno><idno type="wicri:Area/Ncbi/Checkpoint">003C03</idno><idno type="wicri:Area/Main/Merge">000880</idno><idno type="wicri:Area/Main/Curation">000880</idno><idno type="wicri:Area/Main/Exploration">000880</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Nonmotor and extracerebellar features in Machado-Joseph disease: a review.</title><author><name sortKey="Pedroso, Jose Luiz" sort="Pedroso, Jose Luiz" uniqKey="Pedroso J" first="José Luiz" last="Pedroso">José Luiz Pedroso</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. jlpedroso.neuro@gmail.com</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Universidade Federal de São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Franca, Marcondes C" sort="Franca, Marcondes C" uniqKey="Franca M" first="Marcondes C" last="França">Marcondes C. França</name></author><author><name sortKey="Braga Neto, Pedro" sort="Braga Neto, Pedro" uniqKey="Braga Neto P" first="Pedro" last="Braga-Neto">Pedro Braga-Neto</name></author><author><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name></author><author><name sortKey="Saraiva Pereira, Maria Luiza" sort="Saraiva Pereira, Maria Luiza" uniqKey="Saraiva Pereira M" first="Maria Luiza" last="Saraiva-Pereira">Maria Luiza Saraiva-Pereira</name></author><author><name sortKey="Saute, Jonas A" sort="Saute, Jonas A" uniqKey="Saute J" first="Jonas A" last="Saute">Jonas A. Saute</name></author><author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Hélio A" last="Teive">Hélio A. Teive</name></author><author><name sortKey="Caramelli, Paulo" sort="Caramelli, Paulo" uniqKey="Caramelli P" first="Paulo" last="Caramelli">Paulo Caramelli</name></author><author><name sortKey="Jardim, Laura Bannach" sort="Jardim, Laura Bannach" uniqKey="Jardim L" first="Laura Bannach" last="Jardim">Laura Bannach Jardim</name></author><author><name sortKey="Lopes Cendes, Iscia" sort="Lopes Cendes, Iscia" uniqKey="Lopes Cendes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name></author><author><name sortKey="Barsottini, Orlando Graziani P" sort="Barsottini, Orlando Graziani P" uniqKey="Barsottini O" first="Orlando Graziani P" last="Barsottini">Orlando Graziani P. Barsottini</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (pathology)</term><term>Cognition Disorders (etiology)</term><term>Humans</term><term>Machado-Joseph Disease (genetics)</term><term>Machado-Joseph Disease (pathology)</term><term>Machado-Joseph Disease (physiopathology)</term><term>Mental Disorders (etiology)</term><term>Movement Disorders (etiology)</term><term>Muscle Cramp (etiology)</term><term>Nerve Tissue Proteins (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Nutrition Disorders (etiology)</term><term>Pain (etiology)</term><term>Peripheral Nervous System Diseases (etiology)</term><term>Repressor Proteins (genetics)</term><term>Sleep Disorders (etiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term><term>Repressor Proteins</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognition Disorders</term><term>Mental Disorders</term><term>Movement Disorders</term><term>Muscle Cramp</term><term>Nutrition Disorders</term><term>Pain</term><term>Peripheral Nervous System Diseases</term><term>Sleep Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Machado-Joseph Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Machado-Joseph Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Machado-Joseph Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement></list><tree><noCountry><name sortKey="Barsottini, Orlando Graziani P" sort="Barsottini, Orlando Graziani P" uniqKey="Barsottini O" first="Orlando Graziani P" last="Barsottini">Orlando Graziani P. Barsottini</name><name sortKey="Braga Neto, Pedro" sort="Braga Neto, Pedro" uniqKey="Braga Neto P" first="Pedro" last="Braga-Neto">Pedro Braga-Neto</name><name sortKey="Caramelli, Paulo" sort="Caramelli, Paulo" uniqKey="Caramelli P" first="Paulo" last="Caramelli">Paulo Caramelli</name><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name><name sortKey="Franca, Marcondes C" sort="Franca, Marcondes C" uniqKey="Franca M" first="Marcondes C" last="França">Marcondes C. França</name><name sortKey="Jardim, Laura Bannach" sort="Jardim, Laura Bannach" uniqKey="Jardim L" first="Laura Bannach" last="Jardim">Laura Bannach Jardim</name><name sortKey="Lopes Cendes, Iscia" sort="Lopes Cendes, Iscia" uniqKey="Lopes Cendes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name><name sortKey="Saraiva Pereira, Maria Luiza" sort="Saraiva Pereira, Maria Luiza" uniqKey="Saraiva Pereira M" first="Maria Luiza" last="Saraiva-Pereira">Maria Luiza Saraiva-Pereira</name><name sortKey="Saute, Jonas A" sort="Saute, Jonas A" uniqKey="Saute J" first="Jonas A" last="Saute">Jonas A. Saute</name><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Hélio A" last="Teive">Hélio A. Teive</name></noCountry><country name="Brésil"><region name="État de São Paulo"><name sortKey="Pedroso, Jose Luiz" sort="Pedroso, Jose Luiz" uniqKey="Pedroso J" first="José Luiz" last="Pedroso">José Luiz Pedroso</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000880 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000880 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:23775899
|texte= Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23775899" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |