Tone deafness: a model complex cortical phenotype.
Identifieur interne : 000212 ( Main/Exploration ); précédent : 000211; suivant : 000213Tone deafness: a model complex cortical phenotype.
Auteurs : Timothy D. Griffiths [Royaume-Uni]Source :
- Clinical medicine (London, England) [ 1470-2118 ] ; 2008.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Troubles de la perception.
- physiologie : Discrimination de la hauteur tonale.
- Cortex cérébral, Humains, Modèles neurologiques, Musique, Phénotype.
English descriptors
- KwdEn :
- MESH :
- genetics : Perceptual Disorders.
- physiology : Pitch Discrimination.
- Cerebral Cortex, Humans, Models, Neurological, Music, Phenotype.
Abstract
We all know people with tone deafness: these are the people who get thrown out of the choir at school. Although tone deafness is recognised as an output disorder, recent studies have characterised it as one of music perception in the absence of deafness or any associated cognitive disorder. The disorder can therefore be characterised as a form of auditory agnosia. This article considers how the phenotype might be deconstructed to the level of a causal deficit in the perception of pitch pattern. Based on our evolving understanding of the normal brain bases for this process a cortical deficit beyond primary cortex would be predicted. In tone deafness, structural cortical variations have been demonstrated by recent studies that detect subtle changes in the cortical mantle and underlying white matter: these changes are within a right hemisphere network for pitch pattern analysis and working memory for pitch. Studies of multiply affected families are underway to see if the disruption of this network can be caused by single genes. This disorder therefore offers the opportunity to study how a complex phenotype can be characterised as a cortical perceptual disorder potentially explained by a single gene or molecule. Although tone deafness is not pernicious, the underlying abnormality may prove to be a disorder of cortical connectivity that provides a model for disorders that are more so, such as schizophrenia.
DOI: 10.7861/clinmedicine.8-6-592
PubMed: 19149280
PubMed Central: PMC4954396
Affiliations:
Links toward previous steps (curation, corpus...)
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Although tone deafness is recognised as an output disorder, recent studies have characterised it as one of music perception in the absence of deafness or any associated cognitive disorder. The disorder can therefore be characterised as a form of auditory agnosia. This article considers how the phenotype might be deconstructed to the level of a causal deficit in the perception of pitch pattern. Based on our evolving understanding of the normal brain bases for this process a cortical deficit beyond primary cortex would be predicted. In tone deafness, structural cortical variations have been demonstrated by recent studies that detect subtle changes in the cortical mantle and underlying white matter: these changes are within a right hemisphere network for pitch pattern analysis and working memory for pitch. Studies of multiply affected families are underway to see if the disruption of this network can be caused by single genes. This disorder therefore offers the opportunity to study how a complex phenotype can be characterised as a cortical perceptual disorder potentially explained by a single gene or molecule. Although tone deafness is not pernicious, the underlying abnormality may prove to be a disorder of cortical connectivity that provides a model for disorders that are more so, such as schizophrenia.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19149280</PMID><DateCompleted><Year>2009</Year><Month>03</Month><Day>05</Day></DateCompleted><DateRevised><Year>2019</Year><Month>06</Month><Day>08</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1470-2118</ISSN><JournalIssue CitedMedium="Print"><Volume>8</Volume><Issue>6</Issue><PubDate><Year>2008</Year><Month>Dec</Month></PubDate></JournalIssue><Title>Clinical medicine (London, England)</Title></Journal><ArticleTitle>Tone deafness: a model complex cortical phenotype.</ArticleTitle><Pagination><MedlinePgn>592-5</MedlinePgn></Pagination><Abstract><AbstractText>We all know people with tone deafness: these are the people who get thrown out of the choir at school. Although tone deafness is recognised as an output disorder, recent studies have characterised it as one of music perception in the absence of deafness or any associated cognitive disorder. The disorder can therefore be characterised as a form of auditory agnosia. This article considers how the phenotype might be deconstructed to the level of a causal deficit in the perception of pitch pattern. Based on our evolving understanding of the normal brain bases for this process a cortical deficit beyond primary cortex would be predicted. In tone deafness, structural cortical variations have been demonstrated by recent studies that detect subtle changes in the cortical mantle and underlying white matter: these changes are within a right hemisphere network for pitch pattern analysis and working memory for pitch. Studies of multiply affected families are underway to see if the disruption of this network can be caused by single genes. This disorder therefore offers the opportunity to study how a complex phenotype can be characterised as a cortical perceptual disorder potentially explained by a single gene or molecule. Although tone deafness is not pernicious, the underlying abnormality may prove to be a disorder of cortical connectivity that provides a model for disorders that are more so, such as schizophrenia.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Griffiths</LastName><ForeName>Timothy D</ForeName><Initials>TD</Initials><AffiliationInfo><Affiliation>Newcastle University. t.d.griffiths@ncl.ac.uk</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Clin Med (Lond)</MedlineTA><NlmUniqueID>101092853</NlmUniqueID><ISSNLinking>1470-2118</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002540" MajorTopicYN="N">Cerebral Cortex</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008959" MajorTopicYN="N">Models, Neurological</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009146" MajorTopicYN="N">Music</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010468" MajorTopicYN="N">Perceptual Disorders</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010897" MajorTopicYN="N">Pitch Discrimination</DescriptorName><QualifierName UI="Q000502" MajorTopicYN="Y">physiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>1</Month><Day>20</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>1</Month><Day>20</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>3</Month><Day>6</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19149280</ArticleId><ArticleId IdType="pmc">PMC4954396</ArticleId><ArticleId IdType="doi">10.7861/clinmedicine.8-6-592</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Griffiths, Timothy D" sort="Griffiths, Timothy D" uniqKey="Griffiths T" first="Timothy D" last="Griffiths">Timothy D. 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