MovDisordV3, Ncbi, Curation, bibRecord, 001258

Clinical and genetic study of a large SPG4 Italian family.

Identifieur interne : 001258 ( Ncbi/Curation ); précédent : 001257; suivant : 001259

Clinical and genetic study of a large SPG4 Italian family.

Auteurs : Antonio Orlacchio [Italie] ; Toshitaka Kawarai ; Fabrizio Gaudiello ; Antonio Totaro ; Orazio Schillaci ; Alessandro Stefani ; Roberto Floris ; Peter H. St George-Hyslop ; Sandro Sorbi ; Giorgio Bernardi

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.

RBID : pubmed:15858810

Descripteurs français

Wicri :
- geographic : Italie.

English descriptors

KwdEn :
- Adenosine Triphosphatases (genetics), Adult, Aged, Brain Mapping, Cerebral Cortex (pathology), DNA Mutational Analysis (methods), Family Health, Female, Frameshift Mutation, Humans, Italy (epidemiology), Male, Middle Aged, Pedigree, Spastic Paraplegia, Hereditary (genetics), Spastic Paraplegia, Hereditary (physiopathology), Tomography, Emission-Computed, Single-Photon (methods).
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.

DOI: 10.1002/mds.20494
PubMed: 15858810

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Le document en format XML

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<author><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it</nlm:affiliation>
<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>
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<author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name>
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<author><name sortKey="Gaudiello, Fabrizio" sort="Gaudiello, Fabrizio" uniqKey="Gaudiello F" first="Fabrizio" last="Gaudiello">Fabrizio Gaudiello</name>
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<author><name sortKey="Totaro, Antonio" sort="Totaro, Antonio" uniqKey="Totaro A" first="Antonio" last="Totaro">Antonio Totaro</name>
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<author><name sortKey="Schillaci, Orazio" sort="Schillaci, Orazio" uniqKey="Schillaci O" first="Orazio" last="Schillaci">Orazio Schillaci</name>
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<author><name sortKey="Stefani, Alessandro" sort="Stefani, Alessandro" uniqKey="Stefani A" first="Alessandro" last="Stefani">Alessandro Stefani</name>
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<author><name sortKey="Floris, Roberto" sort="Floris, Roberto" uniqKey="Floris R" first="Roberto" last="Floris">Roberto Floris</name>
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<author><name sortKey="St George Hyslop, Peter H" sort="St George Hyslop, Peter H" uniqKey="St George Hyslop P" first="Peter H" last="St George-Hyslop">Peter H. St George-Hyslop</name>
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<author><name sortKey="Sorbi, Sandro" sort="Sorbi, Sandro" uniqKey="Sorbi S" first="Sandro" last="Sorbi">Sandro Sorbi</name>
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<author><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical and genetic study of a large SPG4 Italian family.</title>
<author><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name>
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<author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name>
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<author><name sortKey="Gaudiello, Fabrizio" sort="Gaudiello, Fabrizio" uniqKey="Gaudiello F" first="Fabrizio" last="Gaudiello">Fabrizio Gaudiello</name>
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<author><name sortKey="Totaro, Antonio" sort="Totaro, Antonio" uniqKey="Totaro A" first="Antonio" last="Totaro">Antonio Totaro</name>
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<author><name sortKey="Stefani, Alessandro" sort="Stefani, Alessandro" uniqKey="Stefani A" first="Alessandro" last="Stefani">Alessandro Stefani</name>
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<author><name sortKey="Floris, Roberto" sort="Floris, Roberto" uniqKey="Floris R" first="Roberto" last="Floris">Roberto Floris</name>
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<author><name sortKey="St George Hyslop, Peter H" sort="St George Hyslop, Peter H" uniqKey="St George Hyslop P" first="Peter H" last="St George-Hyslop">Peter H. St George-Hyslop</name>
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<author><name sortKey="Sorbi, Sandro" sort="Sorbi, Sandro" uniqKey="Sorbi S" first="Sandro" last="Sorbi">Sandro Sorbi</name>
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<author><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<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>Frameshift Mutation</term>
<term>Humans</term>
<term>Italy (epidemiology)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Spastic Paraplegia, Hereditary (genetics)</term>
<term>Spastic Paraplegia, Hereditary (physiopathology)</term>
<term>Tomography, Emission-Computed, Single-Photon (methods)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adenosine Triphosphatases</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spastic Paraplegia, Hereditary</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Brain Mapping</term>
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<term>Frameshift Mutation</term>
<term>Humans</term>
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<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.</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical and genetic study of a large SPG4 Italian family.

Clinical and genetic study of a large SPG4 Italian family.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki