Clinical and genetic study of a large SPG4 Italian family
Identifieur interne : 003978 ( Main/Exploration ); précédent : 003977; suivant : 003979Clinical and genetic study of a large SPG4 Italian family
Auteurs : Antonio Orlacchio [Italie] ; Toshitaka Kawarai [Canada] ; Fabrizio Gaudiello [Italie] ; Antonio Totaro [Italie] ; Orazio Schillaci [Italie] ; Alessandro Stefani [Italie] ; Roberto Floris [Italie] ; Peter H. St. George-Hyslop [Canada] ; Sandro Sorbi [Italie] ; Giorgio Bernardi [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-08.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adenosine Triphosphatases (genetics), Adult, Aged, Brain Mapping, Cerebral Cortex (pathology), DNA Mutational Analysis (methods), Family Health, Female, Frame, Frameshift Mutation, Hereditary spastic paraplegia, Humans, Italian, Italy (epidemiology), Male, Middle Aged, Mutation, Nervous system diseases, Pedigree, SPG4, Sex, Spastic Paraplegia, Hereditary (genetics), Spastic Paraplegia, Hereditary (physiopathology), Tomography, Emission-Computed, Single-Photon (methods), frame‐shift mutation, gender differences, hereditary spastic paraplegia, intrafamilial phenotypic variations.
- MESH :
- chemical , genetics : Adenosine Triphosphatases.
- geographic , epidemiology : Italy.
- genetics : Spastic Paraplegia, Hereditary.
- methods : DNA Mutational Analysis, Tomography, Emission-Computed, Single-Photon.
- pathology : Cerebral Cortex.
- physiopathology : Spastic Paraplegia, Hereditary.
- Adult, Aged, Brain Mapping, Family Health, Female, Frameshift Mutation, Humans, Male, Middle Aged, Pedigree.
Abstract
A novel SPG4 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, such as peripheral sensory–motor neuropathy, cognitive impairment, and urological dysfunction. Severe clinical features were found predominantly in the men who were affected, and there was no statistically significant correlation of disability and time since onset of symptoms, suggesting the existence of other genetic/nongenetic modifier(s), including gender. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20494
Affiliations:
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wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Gaudiello, Fabrizio" sort="Gaudiello, Fabrizio" uniqKey="Gaudiello F" first="Fabrizio" last="Gaudiello">Fabrizio Gaudiello</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Diagnostica per Immagini e Radiologia Interventistica, Università di Roma “Tor Vergata”, Policlinico “Tor Vergata”, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Totaro, Antonio" sort="Totaro, Antonio" uniqKey="Totaro A" first="Antonio" last="Totaro">Antonio Totaro</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Schillaci, Orazio" sort="Schillaci, Orazio" uniqKey="Schillaci O" first="Orazio" last="Schillaci">Orazio Schillaci</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Diagnostica per Immagini e Radiologia Interventistica, Università di Roma “Tor Vergata”, Policlinico “Tor Vergata”, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Stefani, Alessandro" sort="Stefani, Alessandro" uniqKey="Stefani A" first="Alessandro" last="Stefani">Alessandro Stefani</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Neuroscienze, Università di Roma “Tor Vergata”, Policlinico “Tor Vergata” (Neurologia), Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Floris, Roberto" sort="Floris, Roberto" uniqKey="Floris R" first="Roberto" last="Floris">Roberto Floris</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Diagnostica per Immagini e Radiologia Interventistica, Università di Roma “Tor Vergata”, Policlinico “Tor Vergata”, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="St George Yslop, Peter H" sort="St George Yslop, Peter H" uniqKey="St George Yslop P" first="Peter H." last="St. George-Hyslop">Peter H. St. George-Hyslop</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, Toronto Western Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Sorbi, Sandro" sort="Sorbi, Sandro" uniqKey="Sorbi S" first="Sandro" last="Sorbi">Sandro Sorbi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Neurologiche e Psichiatriche, Università di Firenze, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Neuroscienze, Università di Roma “Tor Vergata”, Policlinico “Tor Vergata” (Neurologia), 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="sub">Official Journal of the Movement Disorder Society</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="2005-08">2005-08</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1055">1055</biblScope><biblScope unit="page" to="1059">1059</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F918217F428685F2B1BDB4F3D52629676F84FE7B</idno><idno type="DOI">10.1002/mds.20494</idno><idno type="ArticleID">MDS20494</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenosine Triphosphatases (genetics)</term><term>Adult</term><term>Aged</term><term>Brain Mapping</term><term>Cerebral Cortex (pathology)</term><term>DNA Mutational Analysis (methods)</term><term>Family Health</term><term>Female</term><term>Frame</term><term>Frameshift Mutation</term><term>Hereditary spastic paraplegia</term><term>Humans</term><term>Italian</term><term>Italy (epidemiology)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Nervous system diseases</term><term>Pedigree</term><term>SPG4</term><term>Sex</term><term>Spastic Paraplegia, Hereditary (genetics)</term><term>Spastic Paraplegia, Hereditary (physiopathology)</term><term>Tomography, Emission-Computed, Single-Photon (methods)</term><term>frame‐shift mutation</term><term>gender differences</term><term>hereditary spastic paraplegia</term><term>intrafamilial phenotypic variations</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adenosine Triphosphatases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebral Cortex</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Brain Mapping</term><term>Family Health</term><term>Female</term><term>Frameshift Mutation</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Cadre</term><term>Italien</term><term>Mutation</term><term>Paraplégie spasmodique héréditaire Strumpell Lorrain</term><term>Sexe</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cadre</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A novel SPG4 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, such as peripheral sensory–motor neuropathy, cognitive impairment, and urological dysfunction. Severe clinical features were found predominantly in the men who were affected, and there was no statistically significant correlation of disability and time since onset of symptoms, suggesting the existence of other genetic/nongenetic modifier(s), including gender. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>Italie</li></country><region><li>Latium</li><li>Ontario</li></region><settlement><li>Rome</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Italie"><region name="Latium"><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name></region><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name><name sortKey="Floris, Roberto" sort="Floris, Roberto" uniqKey="Floris R" first="Roberto" last="Floris">Roberto Floris</name><name sortKey="Gaudiello, Fabrizio" sort="Gaudiello, Fabrizio" uniqKey="Gaudiello F" first="Fabrizio" last="Gaudiello">Fabrizio Gaudiello</name><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name><name sortKey="Schillaci, Orazio" sort="Schillaci, Orazio" uniqKey="Schillaci O" first="Orazio" last="Schillaci">Orazio Schillaci</name><name sortKey="Sorbi, Sandro" sort="Sorbi, Sandro" uniqKey="Sorbi S" first="Sandro" last="Sorbi">Sandro Sorbi</name><name sortKey="Stefani, Alessandro" sort="Stefani, Alessandro" uniqKey="Stefani A" first="Alessandro" last="Stefani">Alessandro Stefani</name><name sortKey="Totaro, Antonio" sort="Totaro, Antonio" uniqKey="Totaro A" first="Antonio" last="Totaro">Antonio Totaro</name></country><country name="Canada"><region name="Ontario"><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></region><name sortKey="St George Yslop, Peter H" sort="St George Yslop, Peter H" uniqKey="St George Yslop P" first="Peter H." last="St. George-Hyslop">Peter H. St. George-Hyslop</name><name sortKey="St George Yslop, Peter H" sort="St George Yslop, Peter H" uniqKey="St George Yslop P" first="Peter H." last="St. George-Hyslop">Peter H. St. George-Hyslop</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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