Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Identifieur interne : 000391 ( Ncbi/Curation ); précédent : 000390; suivant : 000392Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Auteurs : Nikola Kresojevi [Serbie] ; Milija Mijajlovi ; Stojan Peri ; Aleksandra Pavlovi ; Marina Svetel ; Milena Jankovi ; Valerija Dobri ; Ivana Novakovi ; Milan. Lako ; Christine Klein ; Vladimir. KostiSource :
- Parkinsonism & related disorders ; 2013.
English descriptors
- KwdEn :
- Adult, Female, Gaucher Disease (complications), Gaucher Disease (genetics), Gaucher Disease (ultrasonography), Glucosylceramidase (genetics), Humans, Male, Middle Aged, Mutation, Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson Disease (ultrasonography), Ultrasonography, Doppler, Transcranial.
- MESH :
- chemical , genetics : Glucosylceramidase.
- complications : Gaucher Disease, Parkinson Disease.
- genetics : Gaucher Disease, Parkinson Disease.
- ultrasonography : Gaucher Disease, Parkinson Disease.
- Adult, Female, Humans, Male, Middle Aged, Mutation, Ultrasonography, Doppler, Transcranial.
Abstract
The aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+]) and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD-), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD-), 32 sporadic PD patients (sPD), and 43 healthy controls.
DOI: 10.1016/j.parkreldis.2012.12.006
PubMed: 23332636
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pubmed:23332636Le document en format XML
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Kosti</name></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="e-ISSN">1873-5126</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Female</term><term>Gaucher Disease (complications)</term><term>Gaucher Disease (genetics)</term><term>Gaucher Disease (ultrasonography)</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (ultrasonography)</term><term>Ultrasonography, Doppler, Transcranial</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="ultrasonography" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Ultrasonography, Doppler, Transcranial</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+]) and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD-), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD-), 32 sporadic PD patients (sPD), and 43 healthy controls.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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