MovDisordV3, Main, Exploration, bibRecord, 003872

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

Identifieur interne : 003872 ( Main/Exploration ); précédent : 003871; suivant : 003873

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 Lees (neurologue) [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-10.

RBID : ISTEX:09F487B85D959CB59E5A9C61E0BF4FBF62B03B3F

Descripteurs français

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

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Antiparkinson Agents (therapeutic use), Child, Chromosomes, Human, Pair 1 (genetics), Degeneration, Dementia, Dementia (complications), Dementia (genetics), Dementia (pathology), Female, Finger, Functional Laterality (physiology), Gaze, Globus Pallidus (pathology), Humans, Kufor Rakeb Disease, Levodopa, Levodopa (therapeutic use), Magnetic Resonance Imaging, Male, Myoclonus, Nervous system diseases, PARK9, Parkinsonian Disorders (complications), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Pedigree, Pyramidal Tracts (pathology), Severity of Illness Index, Supranuclear Palsy, Progressive (complications), Supranuclear Palsy, Progressive (genetics), autosomal recessive, facial‐faucial‐finger mini‐myoclonus, levodopa.
MESH :
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- complications : Dementia, Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- drug therapy : Parkinsonian Disorders.
- genetics : Chromosomes, Human, Pair 1, Dementia, Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- pathology : Dementia, Globus Pallidus, Pyramidal Tracts.
- physiology : Functional Laterality.
- Adolescent, Adult, Age of Onset, Child, Female, Humans, Magnetic Resonance Imaging, Male, Pedigree, Severity of Illness Index.

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 re‐assessed 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. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/09F487B85D959CB59E5A9C61E0BF4FBF62B03B3F/fulltext/pdf

DOI: 10.1002/mds.20511

Affiliations:

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<term>Adult</term>
<term>Age of Onset</term>
<term>Antiparkinson Agents (therapeutic use)</term>
<term>Child</term>
<term>Chromosomes, Human, Pair 1 (genetics)</term>
<term>Degeneration</term>
<term>Dementia</term>
<term>Dementia (complications)</term>
<term>Dementia (genetics)</term>
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<term>Levodopa</term>
<term>Levodopa (therapeutic use)</term>
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<term>Myoclonus</term>
<term>Nervous system diseases</term>
<term>PARK9</term>
<term>Parkinsonian Disorders (complications)</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (genetics)</term>
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<term>Parkinsonian Disorders</term>
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<term>Parkinsonian Disorders</term>
<term>Supranuclear Palsy, Progressive</term>
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<term>Age of Onset</term>
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<term>Démence</term>
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<term>Parkinsonisme</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 re‐assessed 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. © 2005 Movement Disorder Society</div>
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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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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