Neurological involvement in type 1 (adult) Gaucher's disease.

Abstract

A case of type 1 (adult) Gaucher's disease with a late onset tapeto-retinal degeneration and an initially dopamine responsive extrapyramidal syndrome is described. The literature reporting neurological involvement in type 1 Gaucher's disease is reviewed, and it is concluded that the absence of symptoms and signs of nervous system involvement cannot be used as the sole basis for the classification of this type of Gauchers disease.

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

“…Conversely, glucocerebrosidase gene mutations have recently emerged as a potential risk factor for idiopathic PD (Aharon-Peretz et al 2004;Bembi et al 2003;Clark et al 2005;Gan-Or et al 2008;Machaczka et al 1999;McKeran et al 1985;Tayebi et al 2003;Ziegler et al 2007). In the largest series of PD patients (in an Israeli Ashkenazi cohort) analyzed for glucocerebrosidase mutations so far (420 PD patients, 333 elderly and 3805 young controls), Gan-Or et al (2008) report that glucerebrosidase mutation carrier frequency is 17.9% in PD patients compared to 4.2% in elderly and 6.4% in young controls.…”

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

“…However, many patients do not fit into these categories 1 2. Furthermore, the clinical differentiation between GD1 and GD3 is sometimes difficult during the early phase of the disease and patients may have to be reclassified if neurological deficits appear later in life 3. Recently, an epidemiological survey in GD1 patients found that a significant portion had neurological abnormalities 4.…”

Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease

“…In a number of cases these symptoms can be the consequence of secondary complications of the primary disease (e.g. compression of bone marrow or root nerve as a result of vertebral crush fractures caused by osteonecrosis), whereas in other ones they can be the product of specific GBA gene mutations, particularly in patients presenting parkinsonian syndromes (AharonPeretz et al, 2004;Bembi et al, 2003;Clark et al, 2005;Gan-Or et al, 2008;Machaczka et al, 1999;McKeran et al, 1985;Tayeby et al 2003;Ziegler et al 2007). The type 1 GD course is slowly progressive.…”