Gaucher disease associated with parkinsonism: Four further case reports
Identifieur interne : 000185 ( France/Analysis ); précédent : 000184; suivant : 000186Gaucher 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.
Url:
DOI: 10.1002/ajmg.a.10028
Affiliations:
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ISTEX:B9C788CA558B22B0A8DA8F4A22FB858D7C9C6D5DLe document en format XML
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