Parkinsonism and Anderson Fabry's disease: A case report

Abstract

We describe and present a videotape of a 57-year-old woman admitted to our Neurological Clinic at 46 years of age due to extrapyramidal manifestations suggesting Parkinson's disease (PD) and with a brain magnetic resonance imaging scan showing multi-infarctual leukoencephalopathy. Various investigations led to the diagnosis of Anderson Fabry's disease (AFD). We discuss the possibility of correlation between the patient's parkinsonism and AFD.

Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease

“…Although Fabry disease has been previously reported as a rare lysosomal storage disease, a recent newborn screening has revealed that the frequency of α-GAL gene mutations (1 in~3100 male) is about 15-20 times higher than estimated [31]. Fabry disease with parkinsonism has been reported [32,33]. Therefore, decreased activities of lysosomal acid α-GAL, resulting from either gene mutations or single-nucleotide polymophisms, may contribute to the pathogenesis of sporadic PD as a risk factor.…”

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

“…One case study of a patient with Fabry disease presenting with parkinsonism was described. 85 Reduced activity of GLA is observed in leukocytes of PD patients, 86 and a subsequent study showed a reduced expression of GLA both in the mRNA level and in the protein level in PD patients. 87 However, there is little evidence that GLA genetic variants can be associated with PD, 88 therefore the role of GLA in PD is still to be determined.…”

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

“…No increase in the number of patients with PD was reported in a Fabry registry outcome survey 92. Nevertheless, there are 3 case reports mentioning parkinsonism associated with Fabry disease 93–95. In addition, storage material was found in the SN of Fabry patients 96…”