Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
Identifieur interne : 001549 ( Main/Exploration ); précédent : 001548; suivant : 001550Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
Auteurs : Arpan R. Mehta [Canada, Royaume-Uni] ; Susan H. Fox [Canada] ; Mark Tarnopolsky [Canada] ; Grace Yoon [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-03.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Ataxia, Cerebellum, Cerebellum (pathology), Cerebellum (radionuclide imaging), DNA, Mitochondrial (genetics), DNA-Directed DNA Polymerase (genetics), Female, Humans, Magnetic Resonance Imaging, Middle Aged, Mitochondria, Mitochondrial disorder, Multiple System Atrophy (genetics), Multiple System Atrophy (pathology), Multiple System Atrophy (radionuclide imaging), Multiple system atrophy, Muscle, Skeletal (pathology), Nervous system diseases, Parkinsonism, Sequence Deletion (genetics), Subtype, ataxia, mitochondrial disease, multiple system atrophy, parkinsonism, polymerase gamma gene.
- MESH :
- chemical , genetics : DNA, Mitochondrial, DNA-Directed DNA Polymerase.
- genetics : Multiple System Atrophy, Sequence Deletion.
- pathology : Cerebellum, Multiple System Atrophy, Muscle, Skeletal.
- radionuclide imaging : Cerebellum, Multiple System Atrophy.
- Female, Humans, Magnetic Resonance Imaging, Middle Aged.
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‐γ 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. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23510
Affiliations:
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Fox</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neuromuscular and Neurometabolic Disease, McMaster University Medical Center, Hamilton</wicri:regionArea><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"><country xml:lang="fr">Canada</country><wicri:regionArea>Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2011-03">2011-03</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="753">753</biblScope><biblScope unit="page" to="755">755</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">FEF1B11547DEF9D1B11538BE5891B797E5B280BB</idno><idno type="DOI">10.1002/mds.23510</idno><idno type="ArticleID">MDS23510</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Cerebellum</term><term>Cerebellum (pathology)</term><term>Cerebellum (radionuclide imaging)</term><term>DNA, Mitochondrial (genetics)</term><term>DNA-Directed DNA Polymerase (genetics)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term><term>Mitochondria</term><term>Mitochondrial disorder</term><term>Multiple System Atrophy (genetics)</term><term>Multiple System Atrophy (pathology)</term><term>Multiple System Atrophy (radionuclide imaging)</term><term>Multiple system atrophy</term><term>Muscle, Skeletal (pathology)</term><term>Nervous system diseases</term><term>Parkinsonism</term><term>Sequence Deletion (genetics)</term><term>Subtype</term><term>ataxia</term><term>mitochondrial disease</term><term>multiple system atrophy</term><term>parkinsonism</term><term>polymerase gamma gene</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term><term>DNA-Directed DNA Polymerase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Multiple System Atrophy</term><term>Sequence Deletion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term><term>Multiple System Atrophy</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Cerebellum</term><term>Multiple System Atrophy</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term><term>Atrophie multisystématisée</term><term>Cervelet</term><term>Cytopathie mitochondriale</term><term>Maladie mitochondriale</term><term>Mitochondrie</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Soustype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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‐γ 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. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>Royaume-Uni</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><country name="Royaume-Uni"><noRegion><name sortKey="Mehta, Arpan R" sort="Mehta, Arpan R" uniqKey="Mehta A" first="Arpan R." last="Mehta">Arpan R. Mehta</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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