Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy
Identifieur interne : 003A42 ( Main/Exploration ); précédent : 003A41; suivant : 003A43Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy
Auteurs : Juan J. Zarranz [Espagne] ; Anabel Fernández-Bedoya [Espagne] ; Imanol Lambarri [Espagne] ; Juan C. G Mez-Esteban [Espagne] ; Elena Lezcano [Espagne] ; Javier Zamacona [Espagne] ; Pedro Madoz [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Diagnosis, Differential, E46K mutation SNCA gene, Electroencephalography, Electromyography, Electrooculography, Female, Humans, Lewy Body Disease (complications), Lewy Body Disease (genetics), Male, Middle Aged, Mutation, Nervous system diseases, 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, Sleep Initiation and Maintenance Disorders (complications), Sleep Initiation and Maintenance Disorders (diagnosis), alpha-Synuclein (genetics), sleep, synucleinopathy.
- 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 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
Url:
DOI: 10.1002/mds.20581
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-10">2005-10</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1310">1310</biblScope><biblScope unit="page" to="1315">1315</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9A943710B53288B03F3D38BA2A0015F78B9518DB</idno><idno type="DOI">10.1002/mds.20581</idno><idno type="ArticleID">MDS20581</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></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>E46K mutation SNCA gene</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>Mutation</term><term>Nervous system diseases</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</term><term>Sleep Initiation and Maintenance Disorders (complications)</term><term>Sleep Initiation and Maintenance Disorders (diagnosis)</term><term>alpha-Synuclein (genetics)</term><term>sleep</term><term>synucleinopathy</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><keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term><term>Sommeil</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml: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</div></front></TEI><affiliations><list><country><li>Espagne</li></country></list><tree><country name="Espagne"><noRegion><name sortKey="Zarranz, Juan J" sort="Zarranz, Juan J" uniqKey="Zarranz J" first="Juan J." last="Zarranz">Juan J. Zarranz</name></noRegion><name sortKey="Fernandez Edoya, Anabel" sort="Fernandez Edoya, Anabel" uniqKey="Fernandez Edoya A" first="Anabel" last="Fernández-Bedoya">Anabel Fernández-Bedoya</name><name sortKey="G Mez Steban, Juan C" sort="G Mez Steban, Juan C" uniqKey="G Mez Steban J" first="Juan C." last="G Mez-Esteban">Juan C. G Mez-Esteban</name><name sortKey="Lambarri, Imanol" sort="Lambarri, Imanol" uniqKey="Lambarri I" first="Imanol" last="Lambarri">Imanol Lambarri</name><name sortKey="Lezcano, Elena" sort="Lezcano, Elena" uniqKey="Lezcano E" first="Elena" last="Lezcano">Elena Lezcano</name><name sortKey="Madoz, Pedro" sort="Madoz, Pedro" uniqKey="Madoz P" first="Pedro" last="Madoz">Pedro Madoz</name><name sortKey="Zamacona, Javier" sort="Zamacona, Javier" uniqKey="Zamacona J" first="Javier" last="Zamacona">Javier Zamacona</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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