Clinical and neuropathologic study of a french family with a mutation in the neuroserpin gene
Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated w...
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| Veröffentlicht in: | Neurology 2007-07, Vol.69 (1), p.79-83 |
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| container_title | Neurology |
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| creator | GOURFINKEL-AN, I DUYCKAERTS, C CAMUZAT, A MEYRIGNAC, C SONDEREGGER, P BAULAC, M BRICE, A |
| description | Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum. |
| doi_str_mv | 10.1212/01.wnl.0000265052.99144.b5 |
| format | Article |
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In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.</description><subject>Adult</subject><subject>Amino Acid Substitution</subject><subject>Biological and medical sciences</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dementia - epidemiology</subject><subject>Dementia - genetics</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>France - ethnology</subject><subject>Frontal Lobe - pathology</subject><subject>Frontal Lobe - physiopathology</subject><subject>Genotype</subject><subject>Humans</subject><subject>Inclusion Bodies</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation, Missense</subject><subject>Myoclonic Epilepsies, Progressive - epidemiology</subject><subject>Myoclonic Epilepsies, Progressive - genetics</subject><subject>Neurology</subject><subject>Neuropeptides - genetics</subject><subject>Neuroserpin</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Point Mutation</subject><subject>Serpins - genetics</subject><subject>Switzerland</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkF1LwzAUhoMoOqd_QYKgd61J23x5J8MvGHij4I2EJEu2SJvWpmXs3xtdYbkJOed5zwkPANcY5bjAxR3C-TbUOUqnoASRIhcCV1WuyRGYYVLQjJbF5zGYpT7PSs74GTiP8Ruh1GTiFJxhRhHlnMzA16L2wRtVQxVWMNixbzs1bNq6XXsD4zCudrB1UEHX22A20KnG1zu49cMmFZtxUINvA_QBDhu7z0fbd-m9tsFegBOn6mgvp3sOPp4e3xcv2fLt-XXxsMxMyfiQrZTGlCGlNTKGMU4INo4xoSkXBXMiVYkgCS0rjSyluGJcW-MQqjjXhS3n4HY_t-vbn9HGQTY-GlvXKth2jBILwjATNIH3e9Ckf8beOtn1vlH9TmIk_-RKhGWSKw9y5b9cqUkKX01bRt3Y1SE62UzAzQSomJS6XgXj44HjApWMVeUvAuCEcA</recordid><startdate>20070703</startdate><enddate>20070703</enddate><creator>GOURFINKEL-AN, I</creator><creator>DUYCKAERTS, C</creator><creator>CAMUZAT, A</creator><creator>MEYRIGNAC, C</creator><creator>SONDEREGGER, P</creator><creator>BAULAC, M</creator><creator>BRICE, A</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20070703</creationdate><title>Clinical and neuropathologic study of a french family with a mutation in the neuroserpin gene</title><author>GOURFINKEL-AN, I ; DUYCKAERTS, C ; CAMUZAT, A ; MEYRIGNAC, C ; SONDEREGGER, P ; BAULAC, M ; BRICE, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c378t-dab1670abb0cc778551cf779b68927f90cc59537834b0e661478becf00488b2e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Amino Acid Substitution</topic><topic>Biological and medical sciences</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Dementia - epidemiology</topic><topic>Dementia - genetics</topic><topic>Diseases of striated muscles. 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| ispartof | Neurology, 2007-07, Vol.69 (1), p.79-83 |
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| subjects | Adult Amino Acid Substitution Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia - epidemiology Dementia - genetics Diseases of striated muscles. Neuromuscular diseases Exons - genetics Female France - ethnology Frontal Lobe - pathology Frontal Lobe - physiopathology Genotype Humans Inclusion Bodies Male Medical sciences Mutation, Missense Myoclonic Epilepsies, Progressive - epidemiology Myoclonic Epilepsies, Progressive - genetics Neurology Neuropeptides - genetics Neuroserpin Pedigree Phenotype Point Mutation Serpins - genetics Switzerland |
| title | Clinical and neuropathologic study of a french family with a mutation in the neuroserpin gene |
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