scholarly journals Gaucher’s Disease in an Adult Female: A Rare Entity

Cureus ◽  
2021 ◽  
Author(s):  
Pankaj K Kannauje ◽  
Vinay Pandit ◽  
Preetam N Wasnik ◽  
Ashish K Gupta ◽  
Nanditha Venkatesan
Keyword(s):  
Adult Female ◽  
Rare Entity ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

scholarly journals Beta Thalassemia Major with Gaucher’s Disease: A Rare Entity

Cureus ◽  
2019 ◽  
Author(s):  
Naila Bai ◽  
Sharmeen Nasir ◽  
Jawad Ahmed ◽  
Farheen Malik ◽  
Taha Bin Arif
Keyword(s):  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Rare Entity ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Beta Thalassemia Major

scholarly journals Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Etsuro Nakanishi ◽  
Norihito Uemura ◽  
Hisako Akiyama ◽  
Masato Kinoshita ◽  
Sawamura Masanori ◽  
...  
Keyword(s):  
Microglial Activation ◽  
Biochemical Analysis ◽  
Neuronal Cell ◽  
Cell Loss ◽  
Pathological Changes ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Short Lifespan ◽  
Behavioral Abnormalities ◽  
Glucocerebrosidase Gene

AbstractHomozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn) aggregates. We previously reported that gba1 knockout (KO) medaka exhibited glucosylceramide accumulation and neuronopathic GD phenotypes, including short lifespan, the dopaminergic and noradrenergic neuronal cell loss, microglial activation, and swimming abnormality, with asyn accumulation in the brains. A recent study reported that deletion of GBA2, non-lysosomal glucocerebrosidase, in a non-neuronopathic GD mouse model rescued its phenotypes. In the present study, we generated gba2 KO medaka and examined the effect of Gba2 deletion on the phenotypes of gba1 KO medaka. The Gba2 deletion in gba1 KO medaka resulted in the exacerbation of glucosylceramide accumulation and no improvement in neuronopathic GD pathological changes, asyn accumulation, or swimming abnormalities. Meanwhile, though gba2 KO medaka did not show any apparent phenotypes, biochemical analysis revealed asyn accumulation in the brains. gba2 KO medaka showed a trend towards an increase in sphingolipids in the brains, which is one of the possible causes of asyn accumulation. In conclusion, this study demonstrated that the deletion of Gba2 does not rescue the pathological changes or behavioral abnormalities of gba1 KO medaka, and GBA2 represents a novel factor affecting asyn accumulation in the brains.

Gaucher's Disease in an Asymptomatic 72-Year-Old

JAMA ◽  
1977 ◽  
Vol 237 (23) ◽  
pp. 2529 ◽  
Author(s):  
Ernest Beutler
Keyword(s):  
Gaucher's Disease ◽  
Gaucher’S Disease

scholarly journals Hemorrhagic bursitis and bone crises in chronic adult gaucher's disease: a case report

1982 ◽  
Vol 25 (11) ◽  
pp. 1369-1373 ◽  
Author(s):  
Gilbert Gelfand ◽  
Harry Bienenstock
Keyword(s):  
Case Report ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

The neuropathology of infantile Gaucher's disease

1956 ◽  
Vol 72 (1) ◽  
pp. 121-131 ◽  
Author(s):  
R. M. Norman ◽  
H. Urich ◽  
O. C. Lloyd
Keyword(s):  
Gaucher's Disease ◽  
Gaucher’S Disease
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