MovDisordV3, PascalFrancis, Corpus, bibRecord, 001409

The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases

Identifieur interne : 001409 ( PascalFrancis/Corpus ); précédent : 001408; suivant : 001410

The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases

Auteurs : Nee K. Chew ; Pablo Mir ; Mark J. Edwards ; Carla Cordivari ; Davide Martino ; Susanne A. Schneider ; Hee-Tae Kim ; Niall P. Quinn ; Kailash P. Bhatia

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0115904

Descripteurs français

Pascal (Inist)
- Myoclonie, Pathologie du système nerveux, Etude cas.

English descriptors

KwdEn :
- Case study, Myoclonus, Nervous system diseases.

Abstract

We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
A05				`@2 23`
A06				`@2 1`
A08	`01`	`1`	`ENG`	`@1 The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases`
A11	`01`	`1`		`@1 CHEW (Nee K.)`
A11	`02`	`1`		`@1 MIR (Pablo)`
A11	`03`	`1`		`@1 EDWARDS (Mark J.)`
A11	`04`	`1`		`@1 CORDIVARI (Carla)`
A11	`05`	`1`		`@1 MARTINO (Davide)`
A11	`06`	`1`		`@1 SCHNEIDER (Susanne A.)`
A11	`07`	`1`		`@1 KIM (Hee-Tae)`
A11	`08`	`1`		`@1 QUINN (Niall P.)`
A11	`09`	`1`		`@1 BHATIA (Kailash P.)`
A14	`01`			`@1 Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut.`
A14	`02`			`@1 Servicio de Neurologia, Hospital Universitario Virgen del Rocio @2 Seville @3 ESP @Z 2 aut.`
A14	`03`			`@1 National Hospital for Neurology and Neurosurgery, Queen Square @2 London @3 GBR @Z 4 aut.`
A14	`04`			`@1 Department of Neurological and Psychiatric Sciences, University of Bari @3 ITA @Z 5 aut.`
A20				`@1 107-113`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000161904810160`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
A45				`@0 31 ref.`
A47	`01`	`1`		`@0 08-0115904`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Myoclonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Myoclonus @5 01`
C03	`01`	`X`	`SPA`	`@0 Mioclonia @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Etude cas @5 09`
C03	`03`	`X`	`ENG`	`@0 Case study @5 09`
C03	`03`	`X`	`SPA`	`@0 Estudio caso @5 09`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
C07	`01`	`X`	`SPA`	`@0 Movimiento involuntario @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
N21				`@1 063`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 08-0115904 INIST
ET :	The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases
AU :	CHEW (Nee K.); MIR (Pablo); EDWARDS (Mark J.); CORDIVARI (Carla); MARTINO (Davide); SCHNEIDER (Susanne A.); KIM (Hee-Tae); QUINN (Niall P.); BHATIA (Kailash P.)
AF :	Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Servicio de Neurologia, Hospital Universitario Virgen del Rocio/Seville/Espagne (2 aut.); National Hospital for Neurology and Neurosurgery, Queen Square/London/Royaume-Uni (4 aut.); Department of Neurological and Psychiatric Sciences, University of Bari/Italie (5 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 1; Pp. 107-113; Bibl. 31 ref.
LA :	Anglais
EA :	We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
CC :	002B17; 002B17G
FD :	Myoclonie; Pathologie du système nerveux; Etude cas
FG :	Mouvement involontaire; Trouble neurologique
ED :	Myoclonus; Nervous system diseases; Case study
EG :	Involuntary movement; Neurological disorder
SD :	Mioclonia; Sistema nervioso patología; Estudio caso
LO :	INIST-20953.354000161904810160
ID :	08-0115904

Links to Exploration step

Pascal:08-0115904

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases</title>
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<front><div type="abstract" xml:lang="en">We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.</div>
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<fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1>
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<fA14 i1="04"><s1>Department of Neurological and Psychiatric Sciences, University of Bari</s1>
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<ET>The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases</ET>
<AU>CHEW (Nee K.); MIR (Pablo); EDWARDS (Mark J.); CORDIVARI (Carla); MARTINO (Davide); SCHNEIDER (Susanne A.); KIM (Hee-Tae); QUINN (Niall P.); BHATIA (Kailash P.)</AU>
<AF>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Servicio de Neurologia, Hospital Universitario Virgen del Rocio/Seville/Espagne (2 aut.); National Hospital for Neurology and Neurosurgery, Queen Square/London/Royaume-Uni (4 aut.); Department of Neurological and Psychiatric Sciences, University of Bari/Italie (5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 1; Pp. 107-113; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.</EA>
<CC>002B17; 002B17G</CC>
<FD>Myoclonie; Pathologie du   système nerveux; Etude cas</FD>
<FG>Mouvement involontaire; Trouble neurologique</FG>
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<EG>Involuntary movement; Neurological disorder</EG>
<SD>Mioclonia; Sistema nervioso patología; Estudio caso</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases

The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases

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