MovDisordV3, PascalFrancis, Curation, bibRecord, 001910

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

Identifieur interne : 001910 ( PascalFrancis/Curation ); précédent : 001909; suivant : 001911

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

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

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.

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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.
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C03	`01`	`X`	`FRE`	`@0 Myoclonie @5 01`
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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`
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C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
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C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
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C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
N21				`@1 063`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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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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<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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<author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name>
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<author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
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<series><title level="j" type="main">Movement disorders</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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<fA11 i1="07" i2="1"><s1>KIM (Hee-Tae)</s1>
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<fA11 i1="08" i2="1"><s1>QUINN (Niall P.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>BHATIA (Kailash P.)</s1>
</fA11>
<fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Servicio de Neurologia, Hospital Universitario Virgen del Rocio</s1>
<s2>Seville</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>National Hospital for Neurology and Neurosurgery, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurological and Psychiatric Sciences, University of Bari</s1>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA20><s1>107-113</s1>
</fA20>
<fA21><s1>2008</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000161904810160</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2008 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>31 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>08-0115904</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Myoclonie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Myoclonus</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Mioclonia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Case study</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
</fC07>
<fN21><s1>063</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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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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