Neurological

The extent of neurological involvement is dependent on the type of Gaucher disease. Patients with Gaucher disease Type 1 (non-neuronopathic type) do not generally have primary neurological disease.1-3 However, neurologic complications such as spinal cord or nerve root compression may occur with bone disease. Peripheral neuropathy, including altered sensations, and pains in hands and feet, has been observed and may occur more frequently than previously recognised.1,3-6 Additionally, some Type 1 cases have presented with neurological manifestations such as Parkinsonism, dementia, and neuropathy.7

Gaucher disease Type 2 (acute neuronopathic type) and Type 3 (chronic neuronopathic type) are characterized by the presence of primary neurological disease, although neurological involvement is more severe in patients with Type 2.1,2 Because the neurological distinctions are not absolute, there is increasing recognition that the neuropathy represents a phenotypic continuum, ranging from the more mild rapid eye movements (saccade) to the severe hydrops fetalis.8,9

1. NAGRAL, A. Gaucher disease. J Clin Exp Hepatol. 2014; 4(1): 37–50.
2. PASTORES, GM and HUGHES, DA. Gaucher Disease. 2000 Jul 27 [Updated 2015 Feb 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2015. http://www.ncbi.nlm.nih.gov/books/NBK1269/. [Accessed July 2015.]
3. ESSABAR, L et al. Pan African Medical Journal. 2015; 20:18.
4. HALPERIN, A et al. Acta Neurol Scand. 2007;115(4):275–8.
5. CAPABLO, JL et al. J Neurol Neurosurg Psychiatry. 2008;79(2):219–22.
6. BIEGSTRAATEN, M et al. Brain. 2010;133:2909–19.
7. OLIVEIRA, FL et al. JIMD Rep. 2013;7:31-7.
8. PACKMAN, W ET AL. J Inherit Metab Dis. 2006;29(1):99–105.
9. GOKER-ALPAN, O et al. J Pediatr. 2003;143(2):273–6.

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INTSP/C-ANPROM/GAU/16/0011d AUG2016