Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.
Identifieur interne : 000511 ( PubMed/Curation ); précédent : 000510; suivant : 000512Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.
Auteurs : Syed Omar Shah [États-Unis] ; Hasit Mehta ; Robert FeketeSource :
- Case reports in neurology [ 1662-680X ] ; 2012.
Abstract
Neuroferritinopathy is an autosomal dominant neurodegenerative disorder that includes a movement disorder, cognitive decline, and characteristic findings on brain magnetic resonance imaging (MRI) due to abnormal iron deposition. Here, we present a late-onset case, along with diffusion tensor imaging (DTI).
DOI: 10.1159/000345871
PubMed: 23275784
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.</title><author><name sortKey="Shah, Syed Omar" sort="Shah, Syed Omar" uniqKey="Shah S" first="Syed Omar" last="Shah">Syed Omar Shah</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, New York Medical College, Valhalla, N.Y., USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York Medical College, Valhalla, N.Y.</wicri:regionArea></affiliation></author><author><name sortKey="Mehta, Hasit" sort="Mehta, Hasit" uniqKey="Mehta H" first="Hasit" last="Mehta">Hasit Mehta</name></author><author><name sortKey="Fekete, Robert" sort="Fekete, Robert" uniqKey="Fekete R" first="Robert" last="Fekete">Robert Fekete</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="RBID">pubmed:23275784</idno><idno type="pmid">23275784</idno><idno type="doi">10.1159/000345871</idno><idno type="wicri:Area/PubMed/Corpus">000511</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000511</idno><idno type="wicri:Area/PubMed/Curation">000511</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000511</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.</title><author><name sortKey="Shah, Syed Omar" sort="Shah, Syed Omar" uniqKey="Shah S" first="Syed Omar" last="Shah">Syed Omar Shah</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, New York Medical College, Valhalla, N.Y., USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York Medical College, Valhalla, N.Y.</wicri:regionArea></affiliation></author><author><name sortKey="Mehta, Hasit" sort="Mehta, Hasit" uniqKey="Mehta H" first="Hasit" last="Mehta">Hasit Mehta</name></author><author><name sortKey="Fekete, Robert" sort="Fekete, Robert" uniqKey="Fekete R" first="Robert" last="Fekete">Robert Fekete</name></author></analytic><series><title level="j">Case reports in neurology</title><idno type="eISSN">1662-680X</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Neuroferritinopathy is an autosomal dominant neurodegenerative disorder that includes a movement disorder, cognitive decline, and characteristic findings on brain magnetic resonance imaging (MRI) due to abnormal iron deposition. Here, we present a late-onset case, along with diffusion tensor imaging (DTI).</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">23275784</PMID><DateCompleted><Year>2013</Year><Month>01</Month><Day>01</Day></DateCompleted><DateRevised><Year>2013</Year><Month>05</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1662-680X</ISSN><JournalIssue CitedMedium="Internet"><Volume>4</Volume><Issue>3</Issue><PubDate><Year>2012</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Case reports in neurology</Title><ISOAbbreviation>Case Rep Neurol</ISOAbbreviation></Journal><ArticleTitle>Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging.</ArticleTitle><Pagination><MedlinePgn>216-23</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1159/000345871</ELocationID><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">Neuroferritinopathy is an autosomal dominant neurodegenerative disorder that includes a movement disorder, cognitive decline, and characteristic findings on brain magnetic resonance imaging (MRI) due to abnormal iron deposition. Here, we present a late-onset case, along with diffusion tensor imaging (DTI).</AbstractText><AbstractText Label="CASE PRESENTATION" NlmCategory="METHODS">We report the case of a 74-year-old Caucasian female with no significant past medical history who presented for evaluation of orofacial dyskinesia, suspected to be edentulous dyskinesia given her history of ill-fitting dentures. She had also developed slowly progressive dysarthria, dysphagia, visual hallucinations as well as stereotypic movements of her hands and feet.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The eye-of-the-tiger sign was demonstrated on T2 MRI. Increased fractional anisotropy and T2 hypointensity were observed in the periphery of the globus pallidus, putamen, substantia nigra, and dentate nucleus. T2 hyperintensity was present in the medial dentate nucleus and central globus pallidus.</AbstractText><AbstractText Label="DISCUSSION" NlmCategory="CONCLUSIONS">The pallidal MRI findings were more typical of pantothenate kinase-associated neurodegeneration (PKAN), but given additional dentate and putamenal involvement, lack of retinopathy, and advanced age of onset, PKAN was less likely. Although the patient's ferritin levels were within low normal range, her clinical and imaging features led to a diagnosis of neuroferritinopathy.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Neurodegeneration with brain iron accumulation (NBIA) is a rare cause of orofacial dyskinesia. DTI MRI can confirm abnormal iron deposition. The location of abnormal iron deposits helps in differentiating NBIA subtypes. Degeneration of the dentate and globus pallidus may occur via an analogous process given their similar T2 and DTI MRI appearance.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Shah</LastName><ForeName>Syed Omar</ForeName><Initials>SO</Initials><AffiliationInfo><Affiliation>Department of Neurology, New York Medical College, Valhalla, N.Y., USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mehta</LastName><ForeName>Hasit</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Fekete</LastName><ForeName>Robert</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>12</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Case Rep Neurol</MedlineTA><NlmUniqueID>101517693</NlmUniqueID><ISSNLinking>1662-680X</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 1968 Oct;19(4):403-9</RefSource><PMID Version="1">5677189</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Oct 28;71(18):1402-9</RefSource><PMID Version="1">18799783</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 1983 Jun;20(3):216-9</RefSource><PMID Version="1">6876115</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2001 Aug;28(4):350-4</RefSource><PMID Version="1">11438811</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2001 Aug;28(4):345-9</RefSource><PMID Version="1">11479594</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80</RefSource><PMID 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PubStatus="entrez"><Year>2013</Year><Month>1</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>1</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>1</Month><Day>1</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">23275784</ArticleId><ArticleId IdType="doi">10.1159/000345871</ArticleId><ArticleId IdType="pii">crn-0004-0216</ArticleId><ArticleId IdType="pmc">PMC3531933</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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