Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy.
Identifieur interne : 003003 ( PubMed/Corpus ); précédent : 003002; suivant : 003004Abnormal 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Diagnosis, Differential, Electroencephalography, Electromyography, Electrooculography, Female, Humans, Lewy Body Disease (complications), Lewy Body Disease (genetics), Male, Middle Aged, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Pedigree, Point Mutation (genetics), Polysomnography, REM Sleep Behavior Disorder (complications), REM Sleep Behavior Disorder (diagnosis), Restless Legs Syndrome (complications), Restless Legs Syndrome (diagnosis), Sleep Initiation and Maintenance Disorders (complications), Sleep Initiation and Maintenance Disorders (diagnosis), alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : alpha-Synuclein.
- complications : Lewy Body Disease, Parkinsonian Disorders, REM Sleep Behavior Disorder, Restless Legs Syndrome, Sleep Initiation and Maintenance Disorders.
- diagnosis : REM Sleep Behavior Disorder, Restless Legs Syndrome, Sleep Initiation and Maintenance Disorders.
- genetics : Lewy Body Disease, Parkinsonian Disorders, Point Mutation.
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Diagnosis, Differential, Electroencephalography, Electromyography, Electrooculography, Female, Humans, Male, Middle Aged, Pedigree, Polysomnography.
Abstract
We examined 7 patients from a family harboring a novel mutation in the alpha-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.
DOI: 10.1002/mds.20581
PubMed: 16001411
Links to Exploration step
pubmed:16001411Le document en format XML
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Zarranz</name><affiliation><nlm:affiliation>Neurology Service, Hospital of Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain. jjzarranz@hcru.osakidetza.net</nlm:affiliation></affiliation></author><author><name sortKey="Fernandez Bedoya, Anabel" sort="Fernandez Bedoya, Anabel" uniqKey="Fernandez Bedoya A" first="Anabel" last="Fernández-Bedoya">Anabel Fernández-Bedoya</name></author><author><name sortKey="Lambarri, Imanol" sort="Lambarri, Imanol" uniqKey="Lambarri I" first="Imanol" last="Lambarri">Imanol Lambarri</name></author><author><name sortKey="G Mez Esteban, Juan C" sort="G Mez Esteban, Juan C" uniqKey="G Mez Esteban J" first="Juan C" last="G Mez-Esteban">Juan C. G Mez-Esteban</name></author><author><name sortKey="Lezcano, Elena" sort="Lezcano, Elena" uniqKey="Lezcano E" first="Elena" last="Lezcano">Elena Lezcano</name></author><author><name sortKey="Zamacona, Javier" sort="Zamacona, Javier" uniqKey="Zamacona J" first="Javier" last="Zamacona">Javier Zamacona</name></author><author><name sortKey="Madoz, Pedro" sort="Madoz, Pedro" uniqKey="Madoz P" first="Pedro" last="Madoz">Pedro Madoz</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20581</idno><idno type="RBID">pubmed:16001411</idno><idno type="pmid">16001411</idno><idno type="wicri:Area/PubMed/Corpus">003003</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy.</title><author><name sortKey="Zarranz, Juan J" sort="Zarranz, Juan J" uniqKey="Zarranz J" first="Juan J" last="Zarranz">Juan J. 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G Mez-Esteban</name></author><author><name sortKey="Lezcano, Elena" sort="Lezcano, Elena" uniqKey="Lezcano E" first="Elena" last="Lezcano">Elena Lezcano</name></author><author><name sortKey="Zamacona, Javier" sort="Zamacona, Javier" uniqKey="Zamacona J" first="Javier" last="Zamacona">Javier Zamacona</name></author><author><name sortKey="Madoz, Pedro" sort="Madoz, Pedro" uniqKey="Madoz P" first="Pedro" last="Madoz">Pedro Madoz</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Electroencephalography</term><term>Electromyography</term><term>Electrooculography</term><term>Female</term><term>Humans</term><term>Lewy Body Disease (complications)</term><term>Lewy Body Disease (genetics)</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Polysomnography</term><term>REM Sleep Behavior Disorder (complications)</term><term>REM Sleep Behavior Disorder (diagnosis)</term><term>Restless Legs Syndrome (complications)</term><term>Restless Legs Syndrome (diagnosis)</term><term>Sleep Initiation and Maintenance Disorders (complications)</term><term>Sleep Initiation and Maintenance Disorders (diagnosis)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Lewy Body Disease</term><term>Parkinsonian Disorders</term><term>REM Sleep Behavior Disorder</term><term>Restless Legs Syndrome</term><term>Sleep Initiation and Maintenance Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>REM Sleep Behavior Disorder</term><term>Restless Legs Syndrome</term><term>Sleep Initiation and Maintenance Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lewy Body Disease</term><term>Parkinsonian Disorders</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Electroencephalography</term><term>Electromyography</term><term>Electrooculography</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Polysomnography</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We examined 7 patients from a family harboring a novel mutation in the alpha-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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16001411</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>11</Day></DateCreated><DateCompleted><Year>2006</Year><Month>02</Month><Day>16</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>10</Issue><PubDate><Year>2005</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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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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