Identification of a novel mutation, I403T, in Cuban type 1 Gaucher disease

2011 ◽  
Vol 46 (4) ◽  
pp. 327 ◽  
Author(s):  
Kalia Lavaut ◽  
Tamara Rubio ◽  
Teresa Collazo ◽  
Alejandro A. Esperón ◽  
Lídice Reyes ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Type 1 Gaucher Disease

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient

1998 ◽  
Vol 11 (5) ◽  
pp. 411-412 ◽  
Author(s):  
Francis Y. M. Choy ◽  
M. Lisa Humphries ◽  
Yoav Ben-Yoseph
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Disease Patient ◽  
Type 1 Gaucher Disease

scholarly journals A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer

Medicine ◽  
2018 ◽  
Vol 97 (27) ◽  
pp. e11361 ◽  
Author(s):  
Sakura Hosoba ◽  
Katsuyuki Kito ◽  
Yukako Teramoto ◽  
Kaori Adachi ◽  
Ryota Nakanishi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Gaucher Disease ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Type 1 Gaucher Disease

Bone Marker Alterations in Patients with Type 1 Gaucher Disease

2003 ◽  
Vol 72 (3) ◽  
pp. 185-189 ◽  
Author(s):  
G. Ciana ◽  
C. Martini ◽  
A. Leopaldi ◽  
G. Tamaro ◽  
F. Katouzian ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Bone Marker ◽  
Type 1 Gaucher Disease

scholarly journals Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease

2021 ◽  
Vol 7 (4) ◽  
pp. e600
Author(s):  
Lais M. Oliveira ◽  
Tara Rastin ◽  
Graeme A.M. Nimmo ◽  
Jay P. Ross ◽  
Patrick A. Dion ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Mutation Carrier ◽  
Gaucher Disease ◽  
Family Members ◽  
Carrier Mother ◽  
Increased Risk ◽  
Type 1 Gaucher Disease ◽  
Population Controls ◽  
Lateral Sclerosis

ObjectiveTo report the association between type 1 Gaucher disease (GD1) and amyotrophic lateral sclerosis (ALS) in 3 unrelated families and to explore whether GBA variants influence the risk of ALS.MethodsWe conducted retrospective chart reviews of patients with GD1 or their family members diagnosed with ALS. To further investigate whether there is an association between ALS and GD, we performed exploratory analyses for the presence of GBA variants in 3 ALS cohorts from Toronto (Canada), Montreal (Canada), and Project MinE (international), totaling 4,653 patients with ALS and 1,832 controls.ResultsWe describe 2 patients with GD1 and 1 obligate GBA mutation carrier (mother of GD1 patient) with ALS. We identified 0 and 8 GBA carriers in the Toronto and Montreal cohorts, respectively. The frequencies of GBA variants in patients with ALS in the Montreal and Project MinE cohorts were similar to those of Project MinE controls or Genome Aggregation Database population controls.ConclusionsThe occurrence of ALS in biallelic or monoallelic GBA mutation carriers described here, in addition to common pathogenic pathways shared by GD1 and ALS, suggests that GBA variants could influence ALS risk. However, analyses of GBA variants in ALS cohorts did not reveal a meaningful association. Examination of larger cohorts and neuropathologic studies will be required to elucidate whether patients with GD1 are indeed at increased risk for ALS.

scholarly journals Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease

2013 ◽  
Vol 119 (1) ◽  
pp. 44-49 ◽  
Author(s):  
Maciej Machaczka ◽  
Fryderyk Lorenz ◽  
Grazina Kleinotiene ◽  
Agnieszka Bulanda ◽  
Alicja Markuszewska-Kuczyńska ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Mycobacterial Infection ◽  
Pulmonary Aspergillosis ◽  
Type 1 Gaucher Disease

Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease

2019 ◽  
Vol 126 (2) ◽  
pp. S49
Author(s):  
Tama Dinur ◽  
Ari Zimran ◽  
Michal Becker Cohen ◽  
David Arkadir ◽  
Claudia Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Adult Patients ◽  
Long Term Follow Up ◽  
Type 1 Gaucher Disease
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