PMC3250487_01
Updated pedigree of the Parry family.. Individuals included in this study are indicated with star symbols on top of individual's number. The proband is marked with an arrow. One of the individuals in generation V was marked V-1A in order to match the individual numbers with the ones in the initially published Parry pedigree, reference 5.
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Proband: The proband (individual VI-2 from the Parry pedigree in Figure 1) is a 49 year-old woman, who was in good health until her mid 20 s. Enrichment of coding exons and flanking intronic regions was performed on three individuals of the pedigree in Figure 1: VI-2, V-1 and V-28.
Laboratory studies of some of the individuals studied.. a) EM study of peripheral lymphocytes of the proband of the Parry family showing storage inclusions with morphology of GROD (arrows). Higher magnification of the area is shown in the upper right corner. b) Neuropathology study of the father of individual KUF01CH showing neuronal accumulation, throughout the CNS, of PAS-positive material with strong, broad-range autofluorescence.
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Results of neuropathology and EM studies of peripheral cells in some of the individuals are shown on Figure 2.