Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.
Identifieur interne : 000642 ( PubMed/Corpus ); précédent : 000641; suivant : 000643Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.
Auteurs : Thibaud Lebouvier ; Thomas Clairembault ; David Devos ; Amandine Pallardy ; Emmanuel Coron ; Michel Neunlist ; Pascal DerkinderenSource :
- Journal of Parkinson's disease [ 1877-718X ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- complications : Gaucher Disease.
- diagnosis : Autonomic Nervous System Diseases, Parkinsonian Disorders.
- Humans, Male, Middle Aged.
Abstract
The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardiac sympathetic denervation. In the present report, we have studied the involvement of the peripheral autonomic system in a patient with Gaucher disease-associated parkinsonism. Using colonic biopsies and quantitative 123I-MIBG scintigraphy respectively, we show that both Lewy pathology and cardiac denervation were present in this case of Gaucher-associated Parkinsonism. We discuss the consequence of these findings on the pathophysiology of the disease.
DOI: 10.3233/JPD-130333
PubMed: 24398657
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last="Devos">David Devos</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pallardy, Amandine" sort="Pallardy, Amandine" uniqKey="Pallardy A" first="Amandine" last="Pallardy">Amandine Pallardy</name><affiliation><nlm:affiliation>Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France.</nlm:affiliation></affiliation></author><author><name sortKey="Coron, Emmanuel" sort="Coron, Emmanuel" uniqKey="Coron E" first="Emmanuel" last="Coron">Emmanuel Coron</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Neunlist, Michel" sort="Neunlist, Michel" uniqKey="Neunlist M" first="Michel" last="Neunlist">Michel Neunlist</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Derkinderen, Pascal" sort="Derkinderen, Pascal" uniqKey="Derkinderen P" first="Pascal" last="Derkinderen">Pascal Derkinderen</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24398657</idno><idno type="pmid">24398657</idno><idno type="doi">10.3233/JPD-130333</idno><idno type="wicri:Area/PubMed/Corpus">000642</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000642</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.</title><author><name sortKey="Lebouvier, Thibaud" sort="Lebouvier, Thibaud" uniqKey="Lebouvier T" first="Thibaud" last="Lebouvier">Thibaud Lebouvier</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Clairembault, Thomas" sort="Clairembault, Thomas" uniqKey="Clairembault T" first="Thomas" last="Clairembault">Thomas Clairembault</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pallardy, Amandine" sort="Pallardy, Amandine" uniqKey="Pallardy A" first="Amandine" last="Pallardy">Amandine Pallardy</name><affiliation><nlm:affiliation>Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France.</nlm:affiliation></affiliation></author><author><name sortKey="Coron, Emmanuel" sort="Coron, Emmanuel" uniqKey="Coron E" first="Emmanuel" last="Coron">Emmanuel Coron</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Neunlist, Michel" sort="Neunlist, Michel" uniqKey="Neunlist M" first="Michel" last="Neunlist">Michel Neunlist</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.</nlm:affiliation></affiliation></author><author><name sortKey="Derkinderen, Pascal" sort="Derkinderen, Pascal" uniqKey="Derkinderen P" first="Pascal" last="Derkinderen">Pascal Derkinderen</name><affiliation><nlm:affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Journal of Parkinson's disease</title><idno type="eISSN">1877-718X</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autonomic Nervous System Diseases (diagnosis)</term><term>Gaucher Disease (complications)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders (diagnosis)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gaucher Disease</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Autonomic Nervous System Diseases</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardiac sympathetic denervation. In the present report, we have studied the involvement of the peripheral autonomic system in a patient with Gaucher disease-associated parkinsonism. Using colonic biopsies and quantitative 123I-MIBG scintigraphy respectively, we show that both Lewy pathology and cardiac denervation were present in this case of Gaucher-associated Parkinsonism. We discuss the consequence of these findings on the pathophysiology of the disease.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24398657</PMID><DateCreated><Year>2014</Year><Month>02</Month><Day>17</Day></DateCreated><DateCompleted><Year>2014</Year><Month>10</Month><Day>14</Day></DateCompleted><DateRevised><Year>2014</Year><Month>02</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1877-718X</ISSN><JournalIssue CitedMedium="Internet"><Volume>4</Volume><Issue>1</Issue><PubDate><Year>2014</Year></PubDate></JournalIssue><Title>Journal of Parkinson's disease</Title><ISOAbbreviation>J Parkinsons Dis</ISOAbbreviation></Journal><ArticleTitle>Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.</ArticleTitle><Pagination><MedlinePgn>29-32</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.3233/JPD-130333</ELocationID><Abstract><AbstractText>The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardiac sympathetic denervation. In the present report, we have studied the involvement of the peripheral autonomic system in a patient with Gaucher disease-associated parkinsonism. Using colonic biopsies and quantitative 123I-MIBG scintigraphy respectively, we show that both Lewy pathology and cardiac denervation were present in this case of Gaucher-associated Parkinsonism. We discuss the consequence of these findings on the pathophysiology of the disease.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lebouvier</LastName><ForeName>Thibaud</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clairembault</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Devos</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pallardy</LastName><ForeName>Amandine</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coron</LastName><ForeName>Emmanuel</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neunlist</LastName><ForeName>Michel</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Inserm, U913, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Derkinderen</LastName><ForeName>Pascal</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>J Parkinsons Dis</MedlineTA><NlmUniqueID>101567362</NlmUniqueID><ISSNLinking>1877-7171</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001342" MajorTopicYN="N">Autonomic Nervous System Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005776" MajorTopicYN="N">Gaucher Disease</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020734" MajorTopicYN="N">Parkinsonian Disorders</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">MIBG scintigraphy</Keyword><Keyword MajorTopicYN="N">Parkinson's disease</Keyword><Keyword MajorTopicYN="N">alpha-synuclein</Keyword><Keyword MajorTopicYN="N">biopsies</Keyword><Keyword MajorTopicYN="N">enteric nervous system</Keyword><Keyword MajorTopicYN="N">gaucher disease</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>1</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>1</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>10</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24398657</ArticleId><ArticleId IdType="pii">V6157532GV07558V</ArticleId><ArticleId IdType="doi">10.3233/JPD-130333</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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