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PubMed2006

Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.

The purpose of this study was to assess the genotype-phenotype of PINK1 mutations. We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. Clinically, hypo-osmia and profound diurnal variation of symptoms were identified as novel features; fluorodopa positron emission tomography revealed striking decline in striatal fluorodopa uptake. We suggest that it may be possible to clinically separate this form of Parkinsonism from dopa-responsive dystonia and Parkin-related Parkinsonism. Furthermore, as this mutation has only been reported in Filipinos (two originated from Luzon island), our results support the hypothesis of a common founder.

Adult↗

PubMed1999

Relationship between coronary function by positron emission tomography and temporal changes in morphology by intravascular ultrasound (IVUS) in transplant recipients.

BACKGROUND: Transplant coronary vasculopathy is one of the major causes of graft failure and death in cardiac transplant recipients. A non-invasive test of coronary function to predict the course of this disease would be desirable. METHODS: To determine whether the degree of abnormalities in endothelial dependent coronary vasomotion (cold pressor testing) or endothelial independent vasodilatory capacity (intravenous dipyridamole) as determined by positron emission tomography (PET) one to two years after heart transplantation is correlated with the course of transplant vasculopathy. Nineteen patients had baseline PET and intravascular ultrasound studies (IVUS) at 18 +/- 6 months after cardiac transplantation and a follow up IVUS study 15 +/- 5 months later. RESULTS: Myocardial blood flow was higher in patients than in healthy controls (p < 0.002) but increased during cold pressor testing only in controls (p < 0.005). Myocardial blood flow normalized to the rate pressure product declined in patients (p < 0.001). Dipyridamole-induced hyperemic blood flow and the flow reserve normalized to the resting rate pressure product were lower in patients than in controls (p < 0.001 and p < 0.01). The normalized flow reserve was correlated with changes in total vessel area (r = 0.55; p = 0.02) and lumen diameter (r = 0.52; p < 0.05). CONCLUSION: These findings suggest that the degree of abnormalities in endothelial independent myocardial flow as detected by PET one to two years after transplantation is associated with morphological indices of disease progression by IVUS.

Cold Temperature↗