MovDisordV3, PascalFrancis, Curation, bibRecord, 000F97

Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

Identifieur interne : 000F97 ( PascalFrancis/Curation ); précédent : 000F96; suivant : 000F98

Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

Auteurs : David R. Williams [Royaume-Uni] ; Ali Hadeed [Jordanie] ; Amir S. Najim Al-Din [Royaume-Uni] ; Abdel-Latif Wreikat [Jordanie] ; Andrew J. Lees [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0002184

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Dégénérescence, Démence, Myoclonie, Lévodopa, Regard, Doigt.

English descriptors

KwdEn :
- Degeneration, Dementia, Finger, Gaze, Levodopa, Myoclonus, Nervous system diseases, Parkinsonism.

Abstract

Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism. pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago. and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically reassessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus. visual hallucinations, and oculogyric dystonic spasms.

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A11	`01`	`1`		`@1 WILLIAMS (David R.)`
A11	`02`	`1`		`@1 HADEED (Ali)`
A11	`03`	`1`		`@1 NAJIM AL-DIN (Amir S.)`
A11	`04`	`1`		`@1 WREIKAT (Abdel-Latif)`
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A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism. pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago. and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically reassessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus. visual hallucinations, and oculogyric dystonic spasms.
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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 Parkinsonisme @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Dégénérescence @5 03`
C03	`03`	`X`	`ENG`	`@0 Degeneration @5 03`
C03	`03`	`X`	`SPA`	`@0 Degeneración @5 03`
C03	`04`	`X`	`FRE`	`@0 Démence @5 04`
C03	`04`	`X`	`ENG`	`@0 Dementia @5 04`
C03	`04`	`X`	`SPA`	`@0 Demencia @5 04`
C03	`05`	`X`	`FRE`	`@0 Myoclonie @5 05`
C03	`05`	`X`	`ENG`	`@0 Myoclonus @5 05`
C03	`05`	`X`	`SPA`	`@0 Mioclonia @5 05`
C03	`06`	`X`	`FRE`	`@0 Lévodopa @2 NK @2 FR @5 09`
C03	`06`	`X`	`ENG`	`@0 Levodopa @2 NK @2 FR @5 09`
C03	`06`	`X`	`SPA`	`@0 Levodopa @2 NK @2 FR @5 09`
C03	`07`	`X`	`FRE`	`@0 Regard @5 10`
C03	`07`	`X`	`ENG`	`@0 Gaze @5 10`
C03	`07`	`X`	`SPA`	`@0 Mirada @5 10`
C03	`08`	`X`	`FRE`	`@0 Doigt @5 11`
C03	`08`	`X`	`ENG`	`@0 Finger @5 11`
C03	`08`	`X`	`SPA`	`@0 Dedo @5 11`
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 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
N21				`@1 002`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:06-0002184

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Degeneration</term>
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<front><div type="abstract" xml:lang="en">Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism. pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago. and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically reassessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus. visual hallucinations, and oculogyric dystonic spasms.</div>
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<fC01 i1="01" l="ENG"><s0>Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism. pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago. and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically reassessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus. visual hallucinations, and oculogyric dystonic spasms.</s0>
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   |type=    RBID
   |clé=     Pascal:06-0002184
   |texte=   Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
}}

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	Movement Disorders (revue)
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Movement Disorders (revue)

Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

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