Novel features in a patient homozygous for the L347P mutation in the PINK1 gene
ABSTRACT 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.
SourceAvailable from: Laura Luisa Kilarski05/2012, Degree: PhD
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ABSTRACT: The quasi-one dimensional (Q1D) Er3+–Yb3+ codoped single-crystal MoO3 ribbons with width range from 1 to 5μm, and maximum length about 30μm have been synthesized by the vapor transport method. The samples were characterized using X-ray diffraction, scanning electron microscopy, transmission electron microscope, and luminescence spectra. By a 975nm laser diode (LD) as excitation source, the blue, green and red emission bands centered at about 408, 532, 553 and 657nm were detected, which attributed to the 2H9/2→4I15/2, 2H11/2, 4S3/2→4I15/2 and 4F9/2→4I15/2 transitions of Er3+, respectively. The three-, and two-photon process was responsible for the blue, green and red up-conversion emissions mechanism for the Q1D Er3+–Yb3+ codoped single-crystal MoO3 ribbons, respectively. The results suggested that the Q1D Er3+–Yb3+ codoped single-crystal MoO3 ribbons will have potential applications in remote bio-imaging and surface enhanced Raman scattering.Optics Communications 05/2011; 284(10):2528-2531. DOI:10.1016/j.optcom.2011.01.019 · 1.54 Impact Factor