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Thesis Marieke Biegstraaten: lysosomal storage disease
25 May 2011

The first section of the thesis focuses on the neurological complications in type I Gaucher disease. Although several case reports on coincidental neurological complications in type I Gaucher disease patients had been published the non-neuronopathic character of the disease has not been debated until recently and the terms type I Gaucher disease and non-neuronopathic Gaucher disease were used as synonyms. Since the description of 6 type I Gaucher disease patients with concomitant early-onset parkinsonism in 1996, many reports and studies on the concurrence of type I Gaucher disease and parkinsonism have been published. Attention was drawn to the possible association between type I Gaucher disease and neurological diseases and the division into neuronopathic and non-neuronopathic phenotypes became subject of debate. To elaborate on this issue we performed several studies on neurological complications in type I Gaucher disease. A large multicentre study on the prevalence and incidence of polyneuropathy in type I Gaucher revealed a prevalence of polyneuropathy of 10.7%. Besides, the cognitive profile of type I Gaucher disease patients was studied. Type I Gaucher disease patients showed slightly impaired speed measures compared with age- and gender-matched control values.

In the second part of the thesis studies on small fibre neuropathy in Fabry disease are described. The small fibre neuropathy in Fabry disease is a length-dependent and Ad-fibre preferential neuropathy. Interestingly, the severity of small nerve fibre damage was not associated with pain intensity. On the contrary, young patients with relatively mild nerve fibre damage had high pain scores, whereas a subset of older patients with more severe nerve fibre damage reported no pain. This could be due to the mechanism of peripheral sensitisation - i.e. limited nerve fibre damage leads to abnormal excitability and pain - in young patients. Conversely, with increasing age and thus with increasing disease burden small nerve fibre damage can become so widespread and severe that pain may abate. Only a few Fabry patients reported orthostatic intolerance or male sexual dysfunction. Moreover, the cardiovascular autonomic function tests showed normal cardiovascular autonomic control in almost all Fabry patients. These findings make it unlikely that Fabry patients suffer from autonomic neuropathy despite the presence of small fibre neuropathy in this patient group. Symptoms and signs that have been attributed to autonomic neuropathy are more likely caused by end-organ failure. 

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