Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
Identifieur interne : 001557 ( Ncbi/Curation ); précédent : 001556; suivant : 001558Partial 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 ; John Q. Trojanowski ; Virginia M-Y Lee ; Matthew B. Stern ; Paul T. KotzbauerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Arginine (genetics), Brain (metabolism), Brain (pathology), DNA Mutational Analysis (methods), Glycine (genetics), Humans, Iron (metabolism), Isoleucine (genetics), Male, Middle Aged, Mutation (genetics), Neurodegenerative Diseases (complications), Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (metabolism), Phosphotransferases (Alcohol Group Acceptor) (deficiency), Phosphotransferases (Alcohol Group Acceptor) (genetics), Tremor (complications), Tremor (genetics), Tremor (metabolism), Valine (genetics).
- 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.
DOI: 10.1002/mds.20797
PubMed: 16450344
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pubmed:16450344Le document en format XML
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<author><name sortKey="Liang, Tsao Wei" sort="Liang, Tsao Wei" uniqKey="Liang T" first="Tsao-Wei" last="Liang">Tsao-Wei Liang</name>
<affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease Research, Education, and Clinical Center, Philadelphia VA Medical Center and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19107, USA. tsao-wei.liang@jefferson.edu</nlm:affiliation>
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<author><name sortKey="Truax, Adam C" sort="Truax, Adam C" uniqKey="Truax A" first="Adam C" last="Truax">Adam C. Truax</name>
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<author><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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<author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M-Y" last="Lee">Virginia M-Y 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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<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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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Brain (metabolism)</term>
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<term>DNA Mutational Analysis (methods)</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>Iron (metabolism)</term>
<term>Isoleucine (genetics)</term>
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<term>Phosphotransferases (Alcohol Group Acceptor) (deficiency)</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term>
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<term>Tremor (genetics)</term>
<term>Tremor (metabolism)</term>
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<term>Glycine</term>
<term>Isoleucine</term>
<term>Phosphotransferases (Alcohol Group Acceptor)</term>
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<term>Tremor</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.</div>
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