Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy
Identifieur interne : 001964 ( Istex/Corpus ); précédent : 001963; suivant : 001965Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy
Auteurs : Juan J. Zarranz ; Anabel Fernández-Bedoya ; Imanol Lambarri ; Juan C. G Mez-Esteban ; Elena Lezcano ; Javier Zamacona ; Pedro MadozSource :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
English descriptors
- KwdEn :
Abstract
We examined 7 patients from a family harboring a novel mutation in the α‐synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies. An abnormal restless sleep was the presenting symptom in 2 of them. Polysomnographic (PSG) studies were performed in 4 of the 7 patients and in 2 asymptomatic carriers of the mutation. A severe loss of both rapid eye movement (REM) and non‐REM sleep was observed in 2 patients complaining of insomnia and in a third parkinsonian member of the family who did not complain of trouble with sleeping. Another parkinsonian family member had a mild disorganization of the sleep architecture. The 2 asymptomatic carriers also had minor changes in the PSG findings. Episodes of bizarre behavior at night were reported historically in the 2 symptomatic patients, but we did not observed the behaviors during the PSG studies. REM sleep behavior disorder could not be recorded in any case. Our findings expand the spectrum of sleep disorders reported in synucleinopathies whether sporadic or familial. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20581
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An abnormal restless sleep was the presenting symptom in 2 of them. Polysomnographic (PSG) studies were performed in 4 of the 7 patients and in 2 asymptomatic carriers of the mutation. A severe loss of both rapid eye movement (REM) and non‐REM sleep was observed in 2 patients complaining of insomnia and in a third parkinsonian member of the family who did not complain of trouble with sleeping. Another parkinsonian family member had a mild disorganization of the sleep architecture. The 2 asymptomatic carriers also had minor changes in the PSG findings. Episodes of bizarre behavior at night were reported historically in the 2 symptomatic patients, but we did not observed the behaviors during the PSG studies. REM sleep behavior disorder could not be recorded in any case. 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An abnormal restless sleep was the presenting symptom in 2 of them. Polysomnographic (PSG) studies were performed in 4 of the 7 patients and in 2 asymptomatic carriers of the mutation. A severe loss of both rapid eye movement (REM) and non‐REM sleep was observed in 2 patients complaining of insomnia and in a third parkinsonian member of the family who did not complain of trouble with sleeping. Another parkinsonian family member had a mild disorganization of the sleep architecture. The 2 asymptomatic carriers also had minor changes in the PSG findings. Episodes of bizarre behavior at night were reported historically in the 2 symptomatic patients, but we did not observed the behaviors during the PSG studies. REM sleep behavior disorder could not be recorded in any case. Our findings expand the spectrum of sleep disorders reported in synucleinopathies whether sporadic or familial. © 2005 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Abnormal Sleep and Familial Synucleinopathy</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy</title></titleInfo><name type="personal"><namePart type="given">Juan J.</namePart><namePart type="family">Zarranz</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Neurology Service, Hospital of Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain</affiliation><description>Correspondence: Servicio de Neurologia, Departamento de Neurociencias, Hospital de Cruces, Universidad del País Vasco, 48903 Baracaldo, Vizcaya. Spain</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anabel</namePart><namePart type="family">Fernández‐Bedoya</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Clinical Neurophysiology, Hospital of Cruces, Baracaldo, Vizcaya, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Imanol</namePart><namePart type="family">Lambarri</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Clinical Neurophysiology, Hospital of Cruces, Baracaldo, Vizcaya, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juan C.</namePart><namePart type="family">Gómez‐Esteban</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurology Service, Hospital of Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elena</namePart><namePart type="family">Lezcano</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Neurology Service, Hospital of Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Javier</namePart><namePart type="family">Zamacona</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Clinical Neurophysiology, Hospital of Cruces, Baracaldo, Vizcaya, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pedro</namePart><namePart type="family">Madoz</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service of Clinical Neurophysiology, Hospital of Cruces, Baracaldo, Vizcaya, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2005-10</dateIssued><dateCaptured encoding="w3cdtf">2004-06-03</dateCaptured><dateValid encoding="w3cdtf">2005-02-03</dateValid><copyrightDate encoding="w3cdtf">2005</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">1</extent><extent unit="tables">2</extent><extent unit="references">33</extent><extent unit="words">4333</extent></physicalDescription><abstract lang="en">We examined 7 patients from a family harboring a novel mutation in the α‐synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies. An abnormal restless sleep was the presenting symptom in 2 of them. Polysomnographic (PSG) studies were performed in 4 of the 7 patients and in 2 asymptomatic carriers of the mutation. A severe loss of both rapid eye movement (REM) and non‐REM sleep was observed in 2 patients complaining of insomnia and in a third parkinsonian member of the family who did not complain of trouble with sleeping. Another parkinsonian family member had a mild disorganization of the sleep architecture. The 2 asymptomatic carriers also had minor changes in the PSG findings. Episodes of bizarre behavior at night were reported historically in the 2 symptomatic patients, but we did not observed the behaviors during the PSG studies. REM sleep behavior disorder could not be recorded in any case. Our findings expand the spectrum of sleep disorders reported in synucleinopathies whether sporadic or familial. © 2005 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>sleep</topic><topic>synucleinopathy</topic><topic>E46K mutation SNCA gene</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2005</date><detail type="volume"><caption>vol.</caption><number>20</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1310</start><end>1315</end><total>6</total></extent></part></relatedItem><identifier type="istex">9A943710B53288B03F3D38BA2A0015F78B9518DB</identifier><identifier type="DOI">10.1002/mds.20581</identifier><identifier type="ArticleID">MDS20581</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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