Abstract
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form—Gaucher type 2—from the subacute or chronic form—Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.
Highlights
Gaucher disease is an inherited autosomal recessive lysosomal storage disease that is diagnosed in patients with both reduced activity of acid β-glucosidase and mutations in the GBA1 gene.[1]
The most common form in the Western world is Gaucher disease type 1 (GD1). It is distinguished by the lack of early onset central nervous system (CNS) involvement characteristic of the other two traditional clinical forms of neuronopathic Gaucher disease
Distinguishing Gaucher disease type 2 (GD2) from Gaucher disease type 3 (GD3) before age 2 years can be challenging in some cases.[2]
Summary
Raphael Schiffmann1 | Jeff Sevigny2 | Arndt Rolfs3 | Elin Haf Davies4 | Ozlem Goker-Alpan5 | Magy Abdelwahab6 | Ashok Vellodi7 | Eugen Mengel8 | Elena Lukina9 | Han-Wook Yoo10 | Tanya Collin-Histed11 | Aya Narita12 | Tama Dinur13 | Shoshana Revel-Vilk13 | David Arkadir14 | Jeff Szer15 | Michael Wajnrajch16 | Uma Ramaswami17 | Ellen Sidransky18 | Aimee Donald19 | Ari Zimran[13,14]. Correspondence Raphael Schiffmann, Baylor Scott & White Research Institute, 3417 Gaston Avenue, Suite 935, Dallas TX 75246.
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