Tetrahydrobiopterin in Fabry disease

and only these have osteonecrosis; 5 received ERT at some time; age (range) diagnosed PD=56.4 (43-72) years; first PD signwas tremor in 9 (64.3%); cognitive dysfunction in all 14 GD+ PD. In GD+ PD, there was nearly twice larger Odds Ratio (OR) for the AG+ GG genotype (9) as for AA (5) while in control GD patients the AG+ GG versus AA value was equality (7). It has been shown that the OR of risk for PD increases with the number of minor alleles (with possible interactions with other SNPs at the same gene location and with other PD-associated SNCA SNPs at other locations). In the current study, this comparison was not greater among GD+ PD than amongmatched patients with GD only. This study showed a similar distribution regarding allele frequency so that the number of patients with at least oneminor allele (AG and GG) relative to those with only the major alleles (AA) was not greater among the GD+ PD compared to matched GD only patients. Similarly, in the aggregate, there was no important difference between the cohorts for frequencyof either allele singly (AversusG). The critical limitation of this study was the small number of GD+ PD patients involved, albeit including virtually the entire cohort of GD+ PD patients among the N500 adult type I GD patients in our clinic. Nonetheless, as a foray into the potential genetic susceptibility of patients with GD for a synucleinopathy or Lewy-body-like disease, this paradigm of casecontrols did not implicate a higher risk than in the general population.