Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism
Identifieur interne : 001513 ( Main/Exploration ); précédent : 001512; suivant : 001514Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism
Auteurs : Arianna Guidubaldi [Italie] ; Carla Piano [Italie] ; Filippo M. Santorelli [Italie] ; Gabriella Silvestri [Italie] ; Martina Petracca [Italie] ; Alessandra Tessa [Italie] ; Anna Rita Bentivoglio [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-02-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Corpus callosum, Female, Genome-Wide Association Study (methods), Hereditary spastic paraplegia, Humans, Levodopa, Levodopa (therapeutic use), Magnetic Resonance Imaging (methods), Mutation, Mutation (genetics), Nervous system diseases, Parkinson Disease (complications), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinsonism, Proteins (genetics), SPG11, Spastic Paraplegia, Hereditary (etiology), Spastic Paraplegia, Hereditary (genetics), levodopa, parkinsonism, spastic paraplegia, thin corpus callosum.
- 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
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. 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 T2‐weighted lesions in periventricular regions, and the 123I‐ioflupane single‐photon emission coupled tomography was abnormal. Results: Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in SPG11. Discussion: 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. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23552
Affiliations:
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Santorelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Molecular Medicine & Neurodegenerative Disorders, IRCCS Foundation Stella Maris, Pisa</wicri:regionArea><wicri:noRegion>Pisa</wicri:noRegion></affiliation></author><author><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Don Carlo Gnocchi Foundation, ONLUS, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Tessa, Alessandra" sort="Tessa, Alessandra" uniqKey="Tessa A" first="Alessandra" last="Tessa">Alessandra Tessa</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Molecular Medicine & Neurodegenerative Disorders, IRCCS Foundation Stella Maris, Pisa</wicri:regionArea><wicri:noRegion>Pisa</wicri:noRegion></affiliation></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-02-15">2011-02-15</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="553">553</biblScope><biblScope unit="page" to="556">556</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4B4BD0027E6AD61D44BBA3E8230DC7DE9D3E49B0</idno><idno type="DOI">10.1002/mds.23552</idno><idno type="ArticleID">MDS23552</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (therapeutic use)</term><term>Corpus callosum</term><term>Female</term><term>Genome-Wide Association Study (methods)</term><term>Hereditary spastic paraplegia</term><term>Humans</term><term>Levodopa</term><term>Levodopa (therapeutic use)</term><term>Magnetic Resonance Imaging (methods)</term><term>Mutation</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (drug therapy)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonism</term><term>Proteins (genetics)</term><term>SPG11</term><term>Spastic Paraplegia, Hereditary (etiology)</term><term>Spastic Paraplegia, Hereditary (genetics)</term><term>levodopa</term><term>parkinsonism</term><term>spastic paraplegia</term><term>thin corpus callosum</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genome-Wide Association Study</term><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Corps calleux</term><term>Lévodopa</term><term>Mutation</term><term>Paraplégie spasmodique héréditaire de Strümpell-Lorrain</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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. 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 T2‐weighted lesions in periventricular regions, and the 123I‐ioflupane single‐photon emission coupled tomography was abnormal. Results: Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in SPG11. Discussion: 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. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name></region><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M." last="Santorelli">Filippo M. Santorelli</name><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name><name sortKey="Tessa, Alessandra" sort="Tessa, Alessandra" uniqKey="Tessa A" first="Alessandra" last="Tessa">Alessandra Tessa</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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