Perrault syndrome: Evidence for progressive nervous system involvement
Identifieur interne : 006F52 ( Istex/Corpus ); précédent : 006F51; suivant : 006F53Perrault syndrome: Evidence for progressive nervous system involvement
Auteurs : Agata Fiumara ; Giovanni Sorge ; Antonio Toscano ; Enrico Parano ; Lorenzo Pavone ; John M. OpitzSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2004-07-30.
Abstract
Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.20616
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Opitz</name><affiliation><mods:affiliation>Departments of Pediatrics, Human Genetics, Obstetrics & Gynecology, University of Utah, Salt Lake City</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">128A</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="246">246</biblScope><biblScope unit="page" to="249">249</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-07-30">2004-07-30</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>deafness</json:string><json:string>perrault</json:string><json:string>neuropathy</json:string><json:string>dysgenesis</json:string><json:string>sensorineural</json:string><json:string>perrault syndrome</json:string><json:string>opitz</json:string><json:string>genet</json:string><json:string>bers</json:string><json:string>sensorineural deafness</json:string><json:string>ovarian</json:string><json:string>ovarian dysgenesis</json:string><json:string>myelinated</json:string><json:string>syndrome</json:string><json:string>hereditary motor</json:string><json:string>sensory neuropathy</json:string><json:string>mental retardation</json:string><json:string>gonadal dysgenesis</json:string><json:string>neurological</json:string><json:string>anomaly</json:string><json:string>extreme sight positions</json:string><json:string>phytanic acid</json:string><json:string>muscle biopsy</json:string><json:string>mild spastic diplegia</json:string><json:string>sural nerve biopsy</json:string><json:string>younger sister</json:string><json:string>neurological signs</json:string><json:string>birth weight</json:string><json:string>nerve conduction velocity</json:string><json:string>older sister</json:string><json:string>lower limbs</json:string><json:string>chromosome analysis</json:string><json:string>severe loss</json:string><json:string>segmental demyelination</json:string><json:string>arched palate</json:string><json:string>pretibial hair</json:string><json:string>upper limbs</json:string><json:string>thyroid hormones</json:string><json:string>cubitus valgus</json:string><json:string>sural nerve</json:string><json:string>abdominal ultrasound studies</json:string><json:string>cerebral palsy</json:string><json:string>msec latency</json:string><json:string>hearing loss</json:string><json:string>cerebellar hemispheres</json:string><json:string>sensorineural hearing loss</json:string><json:string>foot drop</json:string><json:string>peripheral neuropathy</json:string><json:string>short stature</json:string><json:string>system involvement</json:string><json:string>large myelinated</json:string><json:string>nerve deafness</json:string><json:string>optic atrophy</json:string><json:string>autosomal recessive</json:string><json:string>conduction</json:string></teeft></keywords><author><json:item><name>Agata Fiumara</name><affiliations><json:string>Pediatric Neurology, Department of Pediatrics, University of Catania, Italy</json:string><json:string>Dipartimento di Pediatria, Università di Catania, Via S. 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More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>4.841</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>791</abstractCharCount><pdfWordCount>3485</pdfWordCount><pdfCharCount>21726</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>113</abstractWordCount></qualityIndicators><title>Perrault syndrome: Evidence for progressive nervous system involvement</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics Part A</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1552-4833</json:string></doi><issn><json:string>1552-4825</json:string></issn><eissn><json:string>1552-4833</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>128A</volume><issue>3</issue><pages><first>246</first><last>249</last><total>4</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Research Article</value></json:item></subject></host><categories><wos><json:string>science</json:string><json:string>genetics & heredity</json:string></wos><scienceMetrix></scienceMetrix><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>2004</publicationDate><copyrightDate>2004</copyrightDate><doi><json:string>10.1002/ajmg.a.20616</json:string></doi><id>EDCF46503B0491C9EFE4BF0B5518FD695CDEDF94</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/EDCF46503B0491C9EFE4BF0B5518FD695CDEDF94/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/EDCF46503B0491C9EFE4BF0B5518FD695CDEDF94/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/EDCF46503B0491C9EFE4BF0B5518FD695CDEDF94/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Perrault syndrome: Evidence for progressive nervous system involvement</title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2004 Wiley‐Liss, Inc.</licence></availability><date type="published" when="2004-07-30"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Perrault syndrome: Evidence for progressive nervous system involvement</title><title level="a" type="short" xml:lang="en">Perrault Syndrome and CNS Involvement</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">Agata</forename><surname>Fiumara</surname></persName><email>afiumara@katamail.com</email><affiliation>Pediatric Neurology, Department of Pediatrics, University of Catania, Italy<address><country key="IT"></country></address></affiliation><affiliation>Dipartimento di Pediatria, Università di Catania, Via S. 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Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">Perrault syndrome</term><term xml:id="kwd2">sensorineural deafness</term><term xml:id="kwd3">ovarian dysgenesis</term><term xml:id="kwd4">hereditary motor sensory neuropathy</term></keywords><classCode scheme="articleCategory">Research Article</classCode><classCode scheme="tocHeading1">Research Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/EDCF46503B0491C9EFE4BF0B5518FD695CDEDF94/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1552-4833</doi><issn type="print">1552-4825</issn><issn type="electronic">1552-4833</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics Part A</title><title type="short">Am. 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More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Perrault syndrome: Evidence for progressive nervous system involvement</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Perrault Syndrome and CNS Involvement</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Perrault syndrome: Evidence for progressive nervous system involvement</title></titleInfo><name type="personal"><namePart type="given">Agata</namePart><namePart type="family">Fiumara</namePart><affiliation>Pediatric Neurology, Department of Pediatrics, University of Catania, Italy</affiliation><affiliation>Dipartimento di Pediatria, Università di Catania, Via S. Sofia, 78, 95125 Catania, Italy.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Sorge</namePart><affiliation>Pediatric Neurology, Department of Pediatrics, University of Catania, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonio</namePart><namePart type="family">Toscano</namePart><affiliation>Department of Neurology, University of Messina, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Enrico</namePart><namePart type="family">Parano</namePart><affiliation>Istituto Bioimmagini e Fisiopatologia del Sistema Nervoso Centrale, CNR, Catania, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lorenzo</namePart><namePart type="family">Pavone</namePart><affiliation>Pediatric Neurology, Department of Pediatrics, University of Catania, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John M.</namePart><namePart type="family">Opitz</namePart><affiliation>Departments of Pediatrics, Human Genetics, Obstetrics & Gynecology, University of Utah, Salt Lake City</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-07-30</dateIssued><dateCaptured encoding="w3cdtf">2003-02-27</dateCaptured><dateValid encoding="w3cdtf">2003-08-27</dateValid><copyrightDate encoding="w3cdtf">2004</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="references">16</extent><extent unit="words">3882</extent></physicalDescription><abstract lang="en">Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.</abstract><note type="funding">Primary Children's Medical Center Foundation (to JMO)</note><subject lang="en"><genre>keywords</genre><topic>Perrault syndrome</topic><topic>sensorineural deafness</topic><topic>ovarian dysgenesis</topic><topic>hereditary motor sensory neuropathy</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>128A</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>246</start><end>249</end><total>4</total></extent></part></relatedItem><identifier type="istex">EDCF46503B0491C9EFE4BF0B5518FD695CDEDF94</identifier><identifier type="DOI">10.1002/ajmg.a.20616</identifier><identifier type="ArticleID">AJMG20616</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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