This paper documents the first reported case of fucosidosis in a cat. The cat presented with signs of forebrain and cerebellar dysfunction and a magnetic resonance imaging scan of the brain suggested a degenerative or metabolic disease process. A fine needle aspirate of grossly normal lymph nodes revealed vacuolated lymphocytes and a renal biopsy of an irregular shaped kidney identified vacuolated tubular epithelial cells. A white cell lysosomal enzyme screen revealed negligible α-fucosidase activity. Fucosidosis should be considered in the differential diagnosis of young cats with cerebellar dysfunction and must be added to the list of lysosomal storage diseases affecting the cat.
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http://dx.doi.org/10.1016/j.jfms.2010.09.001 | DOI Listing |
The COVID-19 pandemic and increased demands for neurologists have inspired the creation of remote, digitalized tests of neurological functions. This study investigates two tests from the Neurological Functional Tests Suite (NeuFun-TS) smartphone application, the "Postural Sway" and "Pronator Drift" tests. These tests capture different domains of postural control and motoric dysfunction in healthy volunteers (n=13) and people with neurological disorders (n=68 relapsing-remitting multiple sclerosis [MS]; n=21 secondary progressive MS; n=23 primary progressive MS; n=13 other inflammatory neurological diseases; n=21 non-inflammatory neurological diseases; n=4 clinically isolated syndrome; n=1 radiologically isolated syndrome).
View Article and Find Full Text PDFGM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.
View Article and Find Full Text PDFBrain Commun
January 2025
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA) repeat units is considered highly penetrant, while (GAA) is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia.
View Article and Find Full Text PDFNeurosciences (Riyadh)
January 2025
From the Department of Neurology, Faculty of Medicine, Aksaray University, Aksaray, Türkiye.
Objectives: To investigate the potential utility of the C-reactive protein-to-albumin ratio (CAR) and the systemic immune-inflammatory index (SII) as a biomarker in distinguishing between BPPV and acute cerebellar infarction (ACI) due to posterior inferior cerebellar artery (PICA) involvement.
Methods: The data of 2545 patients registered in our hospital database between 2017 and 2024 with a diagnosis of vertigo were retrospectively analyzed and 102 patients with benign paroxysmal positional vertigo (BPPV) and 100 patients with ACI were included in the study. Mann-Whitney U test, Chi-square test, or Fisher's exact test were used to compare variables between the two groups.
Neuroimage
January 2025
Department of Nuclear Medicine, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany. Electronic address:
Aim: Standardized evaluation of [F]PI-2620 tau-PET scans in 4R-tauopathies represents an unmet need in clinical practice. This study aims to investigate the effectiveness of visual evaluation of [F]PI-2620 images for diagnosing 4R-tauopathies and to develop a straight-forward reading algorithm to improve objectivity and data reproducibility.
Methods: A total of 83 individuals with [F]PI-2620 PET scans were included.
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