A fatal infantile storage disorder with hepatosplenomegaly and severe neurological disease is described. Sphingolipids, including monohexosylceramides (mainly glucosylceramide), dihexosylceramides (mainly lactosylceramide), globotriaosyl ceramide, sulphatides, ceramides and globotetraosyl ceramide, were stored in the tissues. In general, cholesterol and sphingomyelin levels were unaltered. The storage process was generalized and affected a number of cell types, with histiocytes, which infiltrated a number of visceral organs and the brain, especially involved. The ultrastructure of the storage lysosomes was membranous with oligolamellar, mainly vesicular, profiles. Infrequently, there were Gaucher-like lysosomes in histiocytes. The neuropathology was severe and featured neuronal storage and loss with a massive depopulation of cortical neurons and pronounced fibrillary astrocytosis. There was a paucity of myelin and stainable axons in the white matter with signs of active demyelination. Immunohistochemical investigations indicated that saposins A, B, C and D were all deficient. The patient was homozygous for a 1 bp deletion (c.803delG) within the SAP-B domain of the prosaposin gene which leads to a frameshift and premature stop codon. In the heterozygous parents, mutant cDNA was detected by amplification refractory mutation analysis in the nuclear, but not the cytoplasmic, fraction of fibroblast RNA, indicating that the mutant mRNA was rapidly degraded. The storage process in the proband resembled that of a published case from an unrelated family. Saposins were also deficient in this case, leading to its reclassification as prosaposin deficiency, and her mother was found to be a carrier for the same c.803delG mutation. Both of the investigated families came from the same district of eastern Slovakia.

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The Montreal Cognitive Assessment (MoCA) is one of the most common screening instruments for mild cognitive impairment. However, the standard MoCA is approximately two times longer to administer than the Mini-Mental State Examination. A total of 699 Czech and 175 American participants received the standard MoCA Czech and English versions and in the clinical part, a sample of 102 nondemented patients with Parkinson's disease (PD). We created a validated Czech short version (s-MoCA-CZ) from the original using item response theory. As expected, s-MoCA-CZ scores were highly correlated with the standard version (Pearson r = .94, p < .001). s-MoCA-CZ also had 80% classification accuracy in the differentiation of PD mild cognitive impairment from PD without impairment. The s-MoCA-CZ, a brief screening tool, is shorter to administer than the standard MoCA. It provides high-classification accuracy for PD mild cognitive impairment and is equivalent to that of the standard MoCA-CZ.

Some people aged 80 years and older are "memory SuperAgers" (SAs), that is, they have the episodic memory of a sexagenarian.In a sample of 208 non-demented adults, we found that 12% were SAs. A total of 101 participants completed the 4-year study; of this subsample, 10.9% were stable SAs and 61.3% stable non-SAs across all assessments. The SA phenotype is conducive to further research.