Literature DB >> 12847165

Gaucher's disease with Parkinson's disease: clinical and pathological aspects.

B Bembi1, S Zambito Marsala, E Sidransky, G Ciana, M Carrozzi, M Zorzon, C Martini, M Gioulis, M G Pittis, L Capus.   

Abstract

The association between type 1 Gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies.

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Year:  2003        PMID： 12847165     DOI： 10.1212/01.wnl.0000072482.70963.d7

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  39 in total

1.  The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

Authors:  P Chérin; C Rose; C de Roux-Serratrice; D Tardy; D Dobbelaere; B Grosbois; E Hachulla; R Jaussaud; R-M Javier; E Noël; P Clerson; A Hartmann
Journal:  J Inherit Metab Dis       Date:  2010-06-02       Impact factor: 4.982

Review 2.  The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Authors:  Arash Velayati; W Haung Yu; Ellen Sidransky
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

Review 3.  GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.

Authors:  Parker H Johnson; Neal J Weinreb; James C Cloyd; Paul J Tuite; Reena V Kartha
Journal:  Mol Genet Metab       Date:  2019-10-23       Impact factor: 4.797

4.  Parkinsonism in type 1 Gaucher's disease.

Authors:  M Spitz; R Rozenberg; P A A Silveira; E R Barbosa
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-05       Impact factor: 10.154

5.  The risk of Parkinson's disease in type 1 Gaucher disease.

Authors:  Gilberto Bultron; Katherine Kacena; Daniel Pearson; Michael Boxer; Ruhua Yang; Swati Sathe; Gregory Pastores; Pramod K Mistry
Journal:  J Inherit Metab Dis       Date:  2010-02-23       Impact factor: 4.982

6.  Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

Authors:  Elena Antelmi; Giovanni Rizzo; Margherita Fabbri; Sabina Capellari; Cesa Scaglione; Paolo Martinelli
Journal:  J Neurol       Date:  2014-07-03       Impact factor: 4.849

Review 7.  Emptying the stores: lysosomal diseases and therapeutic strategies.

Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

8.  Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.

Authors:  M J Barrett; J Hagenah; V Dhawan; S Peng; K Stanley; D Raymond; A Deik; S J Gross; N Schreiber-Agus; A Mirelman; K Marder; L J Ozelius; D Eidelberg; S B Bressman; R Saunders-Pullman
Journal:  Parkinsonism Relat Disord       Date:  2012-10-10       Impact factor: 4.891

9.  Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Authors:  Juliane Neumann; Jose Bras; Emma Deas; Sean S O'Sullivan; Laura Parkkinen; Robin H Lachmann; Abi Li; Janice Holton; Rita Guerreiro; Reema Paudel; Badmavady Segarane; Andrew Singleton; Andrew Lees; John Hardy; Henry Houlden; Tamas Revesz; Nicholas W Wood
Journal:  Brain       Date:  2009-03-13       Impact factor: 13.501

Review 10.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182
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