Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
Identifieur interne : 003016 ( Ncbi/Merge ); précédent : 003015; suivant : 003017Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
Auteurs : Arianna Guidubaldi [Italie] ; Carla Piano ; Filippo M. Santorelli ; Gabriella Silvestri ; Martina Petracca ; Alessandra Tessa ; Anna Rita BentivoglioSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Female, Genome-Wide Association Study (methods), Humans, Levodopa (therapeutic use), Magnetic Resonance Imaging (methods), Mutation (genetics), Parkinson Disease (complications), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Proteins (genetics), Spastic Paraplegia, Hereditary (etiology), Spastic Paraplegia, Hereditary (genetics).
- MESH :
- chemical , genetics : Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- complications : Parkinson Disease.
- drug therapy : Parkinson Disease.
- etiology : Spastic Paraplegia, Hereditary.
- genetics : Mutation, Parkinson Disease, Spastic Paraplegia, Hereditary.
- methods : Genome-Wide Association Study, Magnetic Resonance Imaging.
- Adult, Female, Humans.
Abstract
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.
DOI: 10.1002/mds.23552
PubMed: 21381113
Links toward previous steps (curation, corpus...)
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pubmed:21381113Le document en format XML
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<author><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.</nlm:affiliation>
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<author><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name>
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<author><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name>
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<author><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name>
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<author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name>
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<author><name sortKey="Tessa, Alessandra" sort="Tessa, Alessandra" uniqKey="Tessa A" first="Alessandra" last="Tessa">Alessandra Tessa</name>
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<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
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<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
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<term>Genome-Wide Association Study (methods)</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (complications)</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Proteins (genetics)</term>
<term>Spastic Paraplegia, Hereditary (etiology)</term>
<term>Spastic Paraplegia, Hereditary (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term>
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<front><div type="abstract" xml:lang="en">Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.</div>
</front>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We describe one Italian autosomal recessive hereditary spastic paraplegia with thin corpus callosum patient who unusually presented at onset, 16 years, with parkinsonism-like features, responsive to dopaminergic therapy. Then the clinical picture evolved and became more complex. A brain magnetic resonance imaging scan showed thin corpus callosum and hyperintense T(2)-weighted lesions in periventricular regions, and the (123)I-ioflupane single-photon emission coupled tomography was abnormal.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in SPG11.</AbstractText>
<AbstractText Label="DISCUSSION" NlmCategory="CONCLUSIONS">This case confirms the high genetic and clinical heterogeneity associated with SPG11 mutations. It also offers further evidence that parkinsonism may initiate autosomal recessive hereditary spastic paraplegia with thin corpus callosum and that parkinsonian symptoms can have variable dopaminergic response in these patients.</AbstractText>
<CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation>
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