MovDisordV3, PascalFrancis, Corpus, bibRecord, 001D43

Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy

Identifieur interne : 001D43 ( PascalFrancis/Corpus ); précédent : 001D42; suivant : 001D44

Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy

Auteurs : Juan J. Zarranz ; Anabel Fernandez-Bedoya ; Imanol Lambarri ; Juan C. Gomez-Esteban ; Elena Lezcano ; Javier Zamacona ; Pedro Madoz

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0000214

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Sommeil, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Sleep.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A05				`@2 20`
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A08	`01`	`1`	`ENG`	`@1 Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy`
A11	`01`	`1`		`@1 ZARRANZ (Juan J.)`
A11	`02`	`1`		`@1 FERNANDEZ-BEDOYA (Anabel)`
A11	`03`	`1`		`@1 LAMBARRI (Imanol)`
A11	`04`	`1`		`@1 GOMEZ-ESTEBAN (Juan C.)`
A11	`05`	`1`		`@1 LEZCANO (Elena)`
A11	`06`	`1`		`@1 ZAMACONA (Javier)`
A11	`07`	`1`		`@1 MADOZ (Pedro)`
A14	`01`			`@1 Neurology Service. Hospital of Cruces, Department of Neurosciences, University of the Basque Country @2 Baracaldo, Vizcava @3 ESP @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 Service of Clinical Neurophysiology, Hospital of Cruces @2 Baracaldo, Vizcaya @3 ESP @Z 2 aut. @Z 3 aut. @Z 6 aut. @Z 7 aut.`
A20				`@1 1310-1315`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000135138750070`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 33 ref.`
A47	`01`	`1`		`@0 06-0000214`
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A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 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.
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C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Sommeil @5 09`
C03	`02`	`X`	`ENG`	`@0 Sleep @5 09`
C03	`02`	`X`	`SPA`	`@0 Sueño @5 09`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 10`
C07	`01`	`X`	`FRE`	`@0 Cycle veille sommeil @5 37`
C07	`01`	`X`	`ENG`	`@0 Sleep wake cycle @5 37`
C07	`01`	`X`	`SPA`	`@0 Ciclo sueño vigilia @5 37`
N21				`@1 002`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0000214 INIST
ET :	Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy
AU :	ZARRANZ (Juan J.); FERNANDEZ-BEDOYA (Anabel); LAMBARRI (Imanol); GOMEZ-ESTEBAN (Juan C.); LEZCANO (Elena); ZAMACONA (Javier); MADOZ (Pedro)
AF :	Neurology Service. Hospital of Cruces, Department of Neurosciences, University of the Basque Country/Baracaldo, Vizcava/Espagne (1 aut., 4 aut., 5 aut.); Service of Clinical Neurophysiology, Hospital of Cruces/Baracaldo, Vizcaya/Espagne (2 aut., 3 aut., 6 aut., 7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 10; Pp. 1310-1315; Bibl. 33 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B17A02
FD :	Système nerveux pathologie; Sommeil; Mutation
FG :	Cycle veille sommeil
ED :	Nervous system diseases; Sleep; Mutation
EG :	Sleep wake cycle
SD :	Sistema nervioso patología; Sueño; Mutación
LO :	INIST-20953.354000135138750070
ID :	06-0000214

Links to Exploration step

Pascal:06-0000214

Le document en format XML

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<ET>Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy</ET>
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<AF>Neurology Service. Hospital of Cruces, Department of Neurosciences, University of the Basque Country/Baracaldo, Vizcava/Espagne (1 aut., 4 aut., 5 aut.); Service of Clinical Neurophysiology, Hospital of Cruces/Baracaldo, Vizcaya/Espagne (2 aut., 3 aut., 6 aut., 7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 10; Pp. 1310-1315; Bibl. 33 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17A02</CC>
<FD>Système nerveux pathologie; Sommeil; Mutation</FD>
<FG>Cycle veille sommeil</FG>
<ED>Nervous system diseases; Sleep; Mutation</ED>
<EG>Sleep wake cycle</EG>
<SD>Sistema nervioso patología; Sueño; Mutación</SD>
<LO>INIST-20953.354000135138750070</LO>
<ID>06-0000214</ID>
</server>
</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy

Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy

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