Involvement of the Spinal Cord in Mitochondrial Disorders.
Identifieur interne : 000307 ( Main/Exploration ); précédent : 000306; suivant : 000308Involvement of the Spinal Cord in Mitochondrial Disorders.
Auteurs : Josef Finsterer [Autriche] ; Sinda Zarrouk-Mahjoub [Tunisie]Source :
- Journal of neurosciences in rural practice [ 0976-3147 ]
Abstract
This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated. It occurs in specific and non-specific MIDs. Among the specific MIDs it has been most frequently described in LBSL, LS, MERRF, KSS, IOSCA, MIRAS, and PCH and only rarely in MELAS, CPEO, and LHON. Clinically, spinal cord involvement manifests as monoparesis, paraparesis, quadruparesis, sensory disturbances, hypotonia, spasticity, urinary or defecation dysfunction, spinal column deformities, or as transverse syndrome. Diagnosing spinal cord involvement in MIDs requires a thoroughly taken history, clinical exam, and imaging studies. Additionally, transcranial magnetic stimulation, somato-sensory-evoked potentials, and cerebro-spinal fluid can be supportive. Treatment is generally not at variance compared to the underlying MID but occasionally surgical stabilisation of the spinal column may be necessary. It is concluded that spinal cord involvement in MIDs is more frequent than anticipated but may be missed if cerebral manifestations prevail. Spinal cord involvement in MIDs may strongly determine the mobility of these patients.
DOI: 10.4103/jnrp.jnrp_446_17
PubMed: 29725177
PubMed Central: PMC5912032
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Involvement of the Spinal Cord in Mitochondrial Disorders.</title><author><name sortKey="Finsterer, Josef" sort="Finsterer, Josef" uniqKey="Finsterer J" first="Josef" last="Finsterer">Josef Finsterer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Zarrouk Mahjoub, Sinda" sort="Zarrouk Mahjoub, Sinda" uniqKey="Zarrouk Mahjoub S" first="Sinda" last="Zarrouk-Mahjoub">Sinda Zarrouk-Mahjoub</name><affiliation wicri:level="3"><nlm:affiliation>Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2018">2018 Apr-Jun</date><idno type="RBID">pubmed:29725177</idno><idno type="pmid">29725177</idno><idno type="doi">10.4103/jnrp.jnrp_446_17</idno><idno type="pmc">PMC5912032</idno><idno type="wicri:Area/Main/Corpus">000353</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000353</idno><idno type="wicri:Area/Main/Curation">000353</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000353</idno><idno type="wicri:Area/Main/Exploration">000353</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Involvement of the Spinal Cord in Mitochondrial Disorders.</title><author><name sortKey="Finsterer, Josef" sort="Finsterer, Josef" uniqKey="Finsterer J" first="Josef" last="Finsterer">Josef Finsterer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Zarrouk Mahjoub, Sinda" sort="Zarrouk Mahjoub, Sinda" uniqKey="Zarrouk Mahjoub S" first="Sinda" last="Zarrouk-Mahjoub">Sinda Zarrouk-Mahjoub</name><affiliation wicri:level="3"><nlm:affiliation>Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author></analytic><series><title level="j">Journal of neurosciences in rural practice</title><idno type="ISSN">0976-3147</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated. It occurs in specific and non-specific MIDs. Among the specific MIDs it has been most frequently described in LBSL, LS, MERRF, KSS, IOSCA, MIRAS, and PCH and only rarely in MELAS, CPEO, and LHON. Clinically, spinal cord involvement manifests as monoparesis, paraparesis, quadruparesis, sensory disturbances, hypotonia, spasticity, urinary or defecation dysfunction, spinal column deformities, or as transverse syndrome. Diagnosing spinal cord involvement in MIDs requires a thoroughly taken history, clinical exam, and imaging studies. Additionally, transcranial magnetic stimulation, somato-sensory-evoked potentials, and cerebro-spinal fluid can be supportive. Treatment is generally not at variance compared to the underlying MID but occasionally surgical stabilisation of the spinal column may be necessary. It is concluded that spinal cord involvement in MIDs is more frequent than anticipated but may be missed if cerebral manifestations prevail. Spinal cord involvement in MIDs may strongly determine the mobility of these patients.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">29725177</PMID><DateRevised><Year>2020</Year><Month>09</Month><Day>30</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0976-3147</ISSN><JournalIssue CitedMedium="Print"><Volume>9</Volume><Issue>2</Issue><PubDate><MedlineDate>2018 Apr-Jun</MedlineDate></PubDate></JournalIssue><Title>Journal of neurosciences in rural practice</Title><ISOAbbreviation>J Neurosci Rural Pract</ISOAbbreviation></Journal><ArticleTitle>Involvement of the Spinal Cord in Mitochondrial Disorders.</ArticleTitle><Pagination><MedlinePgn>245-251</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.4103/jnrp.jnrp_446_17</ELocationID><Abstract><AbstractText>This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated. It occurs in specific and non-specific MIDs. Among the specific MIDs it has been most frequently described in LBSL, LS, MERRF, KSS, IOSCA, MIRAS, and PCH and only rarely in MELAS, CPEO, and LHON. Clinically, spinal cord involvement manifests as monoparesis, paraparesis, quadruparesis, sensory disturbances, hypotonia, spasticity, urinary or defecation dysfunction, spinal column deformities, or as transverse syndrome. Diagnosing spinal cord involvement in MIDs requires a thoroughly taken history, clinical exam, and imaging studies. Additionally, transcranial magnetic stimulation, somato-sensory-evoked potentials, and cerebro-spinal fluid can be supportive. Treatment is generally not at variance compared to the underlying MID but occasionally surgical stabilisation of the spinal column may be necessary. It is concluded that spinal cord involvement in MIDs is more frequent than anticipated but may be missed if cerebral manifestations prevail. Spinal cord involvement in MIDs may strongly determine the mobility of these patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Finsterer</LastName><ForeName>Josef</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zarrouk-Mahjoub</LastName><ForeName>Sinda</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Neurosci Rural Pract</MedlineTA><NlmUniqueID>101533710</NlmUniqueID><ISSNLinking>0976-3155</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Mitochondrial</Keyword><Keyword MajorTopicYN="N">mtDNA</Keyword><Keyword MajorTopicYN="N">myelon</Keyword><Keyword MajorTopicYN="N">myelopathy</Keyword><Keyword MajorTopicYN="N">respiratory chain</Keyword><Keyword MajorTopicYN="N">spinal cord</Keyword><Keyword MajorTopicYN="N">transverse syndrome</Keyword></KeywordList><CoiStatement>There are no conflicts of interest.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2018</Year><Month>5</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2018</Year><Month>5</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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