Mitochondrial Mimicry of Multiple System Atrophy of the Cerebellar Subtype
Identifieur interne : 000508 ( PascalFrancis/Checkpoint ); précédent : 000507; suivant : 000509Mitochondrial Mimicry of Multiple System Atrophy of the Cerebellar Subtype
Auteurs : Arpan R. Mehta [Canada] ; Susan H. Fox [Canada] ; Mark Tarnopolsky [Canada] ; Grace Yoon [Canada]Source :
- Movement disorders [ 0885-3185 ] ; 2011.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Background: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). Methods/ Results: Sequencing of the polymerase-y 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy revealed the presence of multiple mitochondrial DNA deletions and depletion, confirming the pathogenic nature of the POLG1 mutations. Discussion: This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population.
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
Pascal:11-0228405Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Mitochondrial Mimicry of Multiple System Atrophy of the Cerebellar Subtype</title><author><name sortKey="Mehta, Arpan R" sort="Mehta, Arpan R" uniqKey="Mehta A" first="Arpan R." last="Mehta">Arpan R. Mehta</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Clinic, Toronto Western Hospital, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Fox, Susan H" sort="Fox, Susan H" uniqKey="Fox S" first="Susan H." last="Fox">Susan H. Fox</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Clinic, Toronto Western Hospital, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Neuromuscular and Neurometabolic Disease, McMaster University Medical Center</s1><s2>Hamilton</s2><s3>CAN</s3><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Hamilton</wicri:noRegion></affiliation></author><author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Divisions of ClinicallMetabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0228405</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0228405 INIST</idno><idno type="RBID">Pascal:11-0228405</idno><idno type="wicri:Area/PascalFrancis/Corpus">000627</idno><idno type="wicri:Area/PascalFrancis/Curation">002691</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000508</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mitochondrial Mimicry of Multiple System Atrophy of the Cerebellar Subtype</title><author><name sortKey="Mehta, Arpan R" sort="Mehta, Arpan R" uniqKey="Mehta A" first="Arpan R." last="Mehta">Arpan R. Mehta</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Clinic, Toronto Western Hospital, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Fox, Susan H" sort="Fox, Susan H" uniqKey="Fox S" first="Susan H." last="Fox">Susan H. Fox</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Clinic, Toronto Western Hospital, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Neuromuscular and Neurometabolic Disease, McMaster University Medical Center</s1><s2>Hamilton</s2><s3>CAN</s3><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Hamilton</wicri:noRegion></affiliation></author><author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Divisions of ClinicallMetabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Cerebellum</term><term>Mitochondria</term><term>Mitochondrial disorder</term><term>Multiple system atrophy</term><term>Nervous system diseases</term><term>Parkinsonism</term><term>Subtype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie multisystématisée</term><term>Cytopathie mitochondriale</term><term>Parkinsonisme</term><term>Ataxie</term><term>Pathologie du système nerveux</term><term>Mitochondrie</term><term>Cervelet</term><term>Soustype</term><term>Maladie mitochondriale</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). Methods/ Results: Sequencing of the polymerase-y 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy revealed the presence of multiple mitochondrial DNA deletions and depletion, confirming the pathogenic nature of the POLG1 mutations. Discussion: This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>26</s2></fA05><fA06><s2>4</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Mitochondrial Mimicry of Multiple System Atrophy of the Cerebellar Subtype</s1></fA08><fA11 i1="01" i2="1"><s1>MEHTA (Arpan R.)</s1></fA11><fA11 i1="02" i2="1"><s1>FOX (Susan H.)</s1></fA11><fA11 i1="03" i2="1"><s1>TARNOPOLSKY (Mark)</s1></fA11><fA11 i1="04" i2="1"><s1>YOON (Grace)</s1></fA11><fA14 i1="01"><s1>Movement Disorder Clinic, Toronto Western Hospital, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></fA14><fA14 i1="02"><s1>Division of Neuromuscular and Neurometabolic Disease, McMaster University Medical Center</s1><s2>Hamilton</s2><s3>CAN</s3><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>Divisions of ClinicallMetabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>4 aut.</sZ></fA14><fA20><s1>753-755</s1></fA20><fA21><s1>2011</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000189767540310</s5></fA43><fA44><s0>0000</s0><s1>© 2011 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>21 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>11-0228405</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Background: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). Methods/ Results: Sequencing of the polymerase-y 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy revealed the presence of multiple mitochondrial DNA deletions and depletion, confirming the pathogenic nature of the POLG1 mutations. Discussion: This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17F</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Atrophie multisystématisée</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Multiple system atrophy</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Atrofia multisistematizada</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Cytopathie mitochondriale</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Mitochondrial disorder</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Citopatía mitocondrial</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Ataxie</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Ataxia</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Ataxia</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>05</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Mitochondrie</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Mitochondria</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Mitocondria</s0><s5>09</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Cervelet</s0><s5>10</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Cerebellum</s0><s5>10</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Cerebelo</s0><s5>10</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Soustype</s0><s5>11</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Subtype</s0><s5>11</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Subtipo</s0><s5>11</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Maladie mitochondriale</s0><s4>INC</s4><s5>86</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Encephalon</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso central</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Enzymopathie</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Enzymopathy</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enzimopatía</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Maladie métabolique</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Metabolic diseases</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Metabolismo patología</s0><s5>41</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>44</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>45</s5></fC07><fN21><s1>150</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Canada</li></country><region><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Mehta, Arpan R" sort="Mehta, Arpan R" uniqKey="Mehta A" first="Arpan R." last="Mehta">Arpan R. Mehta</name></region><name sortKey="Fox, Susan H" sort="Fox, Susan H" uniqKey="Fox S" first="Susan H." last="Fox">Susan H. Fox</name><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000508 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Checkpoint/biblio.hfd -nk 000508 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PascalFrancis
|étape= Checkpoint
|type= RBID
|clé= Pascal:11-0228405
|texte= Mitochondrial Mimicry of Multiple System Atrophy of the Cerebellar Subtype
}}
| This area was generated with Dilib version V0.6.23. |  |