Gaucher disease associated with parkinsonism: Four further case reports
Identifieur interne : 001118 ( Main/Curation ); précédent : 001117; suivant : 001119Gaucher disease associated with parkinsonism: Four further case reports
Auteurs : Judit Várkonyi [Hongrie] ; Hanna Rosenbaum [Israël] ; Nicole Baumann [France] ; Jennifer J. Mackenzie [Canada] ; Zsuzsa Simon [Hongrie] ; Judith Aharon-Peretz [Israël] ; Jamie M. Walker [États-Unis] ; Nahid Tayebi [États-Unis] ; Ellen Sidransky [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-02-01.
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Abstract
Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.10028
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J. Med. Genet.</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2003-02-01">2003-02-01</date><biblScope unit="volume">116A</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="348">348</biblScope><biblScope unit="page" to="351">351</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">B9C788CA558B22B0A8DA8F4A22FB858D7C9C6D5D</idno><idno type="DOI">10.1002/ajmg.a.10028</idno><idno type="ArticleID">AJMG10028</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson disease</term><term>enzyme replacement therapy</term><term>genotype/phenotype correlation</term><term>glucocerebrosidase</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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