MovDisordV3, Main, Exploration, bibRecord, 004185

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

Identifieur interne : 004185 ( Main/Exploration ); précédent : 004184; suivant : 004186

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

Auteurs : Carla Battisti [Italie] ; Patrizla Tarugi [Italie] ; Maria Teresa Dotti [Italie] ; Nicola De Stefano [Italie] ; Angelo Vattimo [Italie] ; Francesea Chierichetti [Italie] ; Sebastiano Calandra [Italie] ; Antonio Federico [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2003-11.

RBID : ISTEX:B3636EB848248037AB662EFE498C840273926009

Descripteurs français

Pascal (Inist)
- Adulte, Age apparition, Biologie moléculaire, Encéphale, Enzymopathie, Etude cas, Exploration, Génétique, Imagerie RMN, Photon, Positon, Sphingolipidose héréditaire Niemann Pick, Tomoscintigraphie.
Wicri :
- topic : Adulte, Génétique.

English descriptors

KwdEn :
- Adult, Age of onset, Atrophy (pathology), Brain (blood supply), Brain (pathology), Carrier Proteins (genetics), Case study, Cognition Disorders (diagnosis), Diagnosis, Differential, Emission tomography, Encephalon, Enzymopathy, Exploration, Fatal Outcome, Genetics, Humans, Male, Membrane Glycoproteins (genetics), Molecular biology, NPC1, Neuropsychological Tests, Niemann Pick disease, Niemann-Pick Diseases (diagnosis), Niemann-Pick Diseases (genetics), Niemann-Pick Diseases (metabolism), Nuclear magnetic resonance imaging, Photon, Polymerase Chain Reaction (methods), Positron, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon, adult‐onset, neuroimaging studies.
MESH :
- chemical , genetics : Carrier Proteins, Membrane Glycoproteins.
- blood supply : Brain.
- diagnosis : Cognition Disorders, Niemann-Pick Diseases.
- genetics : Niemann-Pick Diseases.
- metabolism : Niemann-Pick Diseases.
- methods : Polymerase Chain Reaction.
- pathology : Atrophy, Brain.
- Adult, Diagnosis, Differential, Fatal Outcome, Humans, Male, Neuropsychological Tests, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon.

Abstract

We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult‐onset NPC disease phenotype. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/B3636EB848248037AB662EFE498C840273926009/fulltext/pdf

DOI: 10.1002/mds.10541

Affiliations:

Italie

Le document en format XML

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<term>Brain (pathology)</term>
<term>Carrier Proteins (genetics)</term>
<term>Case study</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Diagnosis, Differential</term>
<term>Emission tomography</term>
<term>Encephalon</term>
<term>Enzymopathy</term>
<term>Exploration</term>
<term>Fatal Outcome</term>
<term>Genetics</term>
<term>Humans</term>
<term>Male</term>
<term>Membrane Glycoproteins (genetics)</term>
<term>Molecular biology</term>
<term>NPC1</term>
<term>Neuropsychological Tests</term>
<term>Niemann Pick disease</term>
<term>Niemann-Pick Diseases (diagnosis)</term>
<term>Niemann-Pick Diseases (genetics)</term>
<term>Niemann-Pick Diseases (metabolism)</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Photon</term>
<term>Polymerase Chain Reaction (methods)</term>
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<term>Severity of Illness Index</term>
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<term>adult‐onset</term>
<term>neuroimaging studies</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Niemann-Pick Diseases</term>
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<term>Age apparition</term>
<term>Biologie moléculaire</term>
<term>Encéphale</term>
<term>Enzymopathie</term>
<term>Etude cas</term>
<term>Exploration</term>
<term>Génétique</term>
<term>Imagerie RMN</term>
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<term>Sphingolipidose héréditaire Niemann Pick</term>
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<front><div type="abstract" xml:lang="en">We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult‐onset NPC disease phenotype. © 2003 Movement Disorder Society</div>
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<name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name>
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<name sortKey="Vattimo, Angelo" sort="Vattimo, Angelo" uniqKey="Vattimo A" first="Angelo" last="Vattimo">Angelo Vattimo</name>
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Movement Disorders (revue)

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

Source :

Descripteurs français

English descriptors

Abstract

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