MovDisordV3, Main, Exploration, bibRecord, 003284

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor‐predominant neurodegeneration with brain iron accumulation

Identifieur interne : 003284 ( Main/Exploration ); précédent : 003283; suivant : 003285

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor‐predominant neurodegeneration with brain iron accumulation

Auteurs : Tsao-Wei Liang [États-Unis] ; Adam C. Truax [États-Unis] ; John Q. Trojanowski [États-Unis] ; Virginia M. Lee [États-Unis] ; Matthew B. Stern [États-Unis] ; Paul T. Kotzbauer [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-05.

RBID : ISTEX:B68556491B45494C60775B6615D741C37292EBA2

Descripteurs français

Pascal (Inist)
- Encéphale, Fer, Pantothenate kinase, Système nerveux pathologie, Tremblement.
Wicri :
- topic : Fer.

English descriptors

KwdEn :
- Arginine (genetics), Brain (metabolism), Brain (pathology), DNA Mutational Analysis (methods), Encephalon, Glycine (genetics), Hallervorden–Spatz syndrome, Humans, Iron, Iron (metabolism), Isoleucine (genetics), Male, Middle Aged, Mutation (genetics), Nervous system diseases, Neurodegenerative Diseases (complications), Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (metabolism), Pantothenate kinase, Phosphotransferases (Alcohol Group Acceptor) (deficiency), Phosphotransferases (Alcohol Group Acceptor) (genetics), Tremor, Tremor (complications), Tremor (genetics), Tremor (metabolism), Valine (genetics), neurodegeneration with brain iron accumulation, pantothenate kinase, pantothenate kinase‐associated neurodegeneration, tremor.
MESH :
- chemical , deficiency : Phosphotransferases (Alcohol Group Acceptor).
- chemical , genetics : Arginine, Glycine, Isoleucine, Phosphotransferases (Alcohol Group Acceptor), Valine.
- complications : Neurodegenerative Diseases, Tremor.
- genetics : Mutation, Neurodegenerative Diseases, Tremor.
- metabolism : Brain, Iron, Neurodegenerative Diseases, Tremor.
- methods : DNA Mutational Analysis.
- pathology : Brain.
- Humans, Male, Middle Aged.

Abstract

We describe an atypical case of pantothenate kinase‐associated neurodegeneration (PKAN) in which slowly progressive arm tremor was the predominant symptom beginning at the age of 25, with late‐onset dystonia and dysarthria developing at the age of 50. Compound heterozygous mutations resulting in missense amino acid substitutions G521R and I529V were identified in the pantothenate kinase (PANK2) gene. We demonstrate that while the G521R mutation results in an unstable and inactive protein, the previously unreported I529V substitution has no apparent effect on the stability or catalytic activity of PanK2. The phenotype that results from this combination of mutations suggests that atypical presentations of PKAN may arise from partial deficits in PanK2 catalytic activity. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/B68556491B45494C60775B6615D741C37292EBA2/fulltext/pdf

DOI: 10.1002/mds.20797

Affiliations:

Le document en format XML

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<author><name sortKey="Lee, Virginia M" sort="Lee, Virginia M" uniqKey="Lee V" first="Virginia M." last="Lee">Virginia M. Lee</name>
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<author><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B." last="Stern">Matthew B. Stern</name>
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<term>DNA Mutational Analysis (methods)</term>
<term>Encephalon</term>
<term>Glycine (genetics)</term>
<term>Hallervorden–Spatz syndrome</term>
<term>Humans</term>
<term>Iron</term>
<term>Iron (metabolism)</term>
<term>Isoleucine (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>Neurodegenerative Diseases (complications)</term>
<term>Neurodegenerative Diseases (genetics)</term>
<term>Neurodegenerative Diseases (metabolism)</term>
<term>Pantothenate kinase</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (deficiency)</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term>
<term>Tremor</term>
<term>Tremor (complications)</term>
<term>Tremor (genetics)</term>
<term>Tremor (metabolism)</term>
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<term>pantothenate kinase</term>
<term>pantothenate kinase‐associated neurodegeneration</term>
<term>tremor</term>
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<term>Isoleucine</term>
<term>Phosphotransferases (Alcohol Group Acceptor)</term>
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<term>Neurodegenerative Diseases</term>
<term>Tremor</term>
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<term>Neurodegenerative Diseases</term>
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<front><div type="abstract" xml:lang="en">We describe an atypical case of pantothenate kinase‐associated neurodegeneration (PKAN) in which slowly progressive arm tremor was the predominant symptom beginning at the age of 25, with late‐onset dystonia and dysarthria developing at the age of 50. Compound heterozygous mutations resulting in missense amino acid substitutions G521R and I529V were identified in the pantothenate kinase (PANK2) gene. We demonstrate that while the G521R mutation results in an unstable and inactive protein, the previously unreported I529V substitution has no apparent effect on the stability or catalytic activity of PanK2. The phenotype that results from this combination of mutations suggests that atypical presentations of PKAN may arise from partial deficits in PanK2 catalytic activity. © 2006 Movement Disorder Society</div>
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<name sortKey="Liang, Tsao Ei" sort="Liang, Tsao Ei" uniqKey="Liang T" first="Tsao-Wei" last="Liang">Tsao-Wei Liang</name>
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<name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name>
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Movement Disorders (revue)

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor‐predominant neurodegeneration with brain iron accumulation

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor‐predominant neurodegeneration with brain iron accumulation

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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