Gaucher disease epidemiology and natural history: a comprehensive review of the literature

Nalysnyk, Luba; Rotella, Philip; Simeone, Jason C; Hamed, Alaa; Weinreb, Neal J.

doi:10.1080/10245332.2016.1240391

Cited by 148 publications

(138 citation statements)

References 62 publications

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“…A recent review of the literature found that the worldwide incidence ranged from 0.39–5.80 per 100,000 with a prevalence of 1.33–1.75 per 100,000, although the data available is quite limited [16]. The carrier frequency for a glucocerebrosidase gene mutation is estimated at 0.0343 in the Ashkenazi Jewish population, and 0.006 in the general population [10,16]. The majority of patients have type 1 GD, the main type seen in the Ashkenazi Jewish population.…”

Section: Epidemiologymentioning

confidence: 99%

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Lal

Sidransky

2017

Diseases

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Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.

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Section: Epidemiologymentioning

confidence: 99%

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Lal

Sidransky

2017

Diseases

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“…With the increased use of ERT over time, symptomatic patients began to receive treatment at younger ages and less severe stages of presentation.ERTremains the gold standard for treatment of gauchersdisease [10].ERT is indicated for patients with type 1 Gauchers disease who manifest with clinical signs and symptoms like anemia, thrombocytopenia , organomegaly and spleenomegaly . Early diagnosis and prompt initiation of treatment when indicated is crucial to prevent or minimize life altering or life threateningliver and skeletal complications [11]. Enzyme replacement therapy seems to eliminate the need for DOI: 10.9790/0853-160303107110 www.iosrjournals.org 110 | Page bone marrow transplantation and has favourable effects on symptoms and outcome.…”

Section: Discussionmentioning

confidence: 99%

Gauchers Disease: A Case Report

Mhatre¹,

Mahore²,

Bothale³

et al. 2017

IOSR JDMS

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“…Gaucher disease is a rare, autosomal recessive condition caused by bi‐allelic pathogenic variants in the β‐glucocerebrosidase gene ( GBA ; Nalysnyk, Rotella, Simeone, Hamed, & Weinreb, ). GBA encodes the protein glucocerebrosidase (GBA), which hydrolyzes glucosylceramide into ceramide and glucose (Balestrino & Schapira, ).…”

Section: Introductionmentioning

confidence: 99%

Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population

Zaretsky

Zeid

Naik

et al. 2019

Journal of Genetic Counseling

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Individuals with Gaucher disease have an increased risk of developing Parkinson's disease as compared to the general population. Though the association is well‐known in the scientific community, it is unclear if individuals with Gaucher disease are being counseled on the increased risk. To date, no studies have been performed assessing whether Gaucher disease patients are aware of the increased risk of developing Parkinson's disease. Furthermore, it is unknown how and when individuals with Gaucher disease wish to learn of the increased risk. To assess this, an online survey was administered to Gaucher disease patients. We hypothesized that most individuals with Gaucher disease have been informed of the risk, and that they wish to be told of the risk by their health care provider at the time of diagnosis. Study results revealed that of 125 individuals with Gaucher disease, 80% previously knew about the association with Parkinson's disease, 83.7% preferred to find out about the increased risk from a health care provider, and 71.0% wanted to find out at the time of Gaucher disease diagnosis. These results suggest that health care providers should counsel Gaucher disease patients about the increased Parkinson's disease risk, and they should do so at the time of diagnosis.

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Gaucher disease epidemiology and natural history: a comprehensive review of the literature

Abstract: Signs and symptoms of GD frequently mimic more common hematologic conditions resulting in missed or delayed diagnosis. Early diagnosis and prompt initiation of treatment when indicated is crucial to prevent or minimize life-altering or life-threatening liver and skeletal complications.

Cited by 148 publications

References 62 publications

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Gauchers Disease: A Case Report

Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population

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