The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges.
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http://dx.doi.org/10.1007/s10048-024-00758-8 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
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View Article and Find Full Text PDFBMC Prim Care
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Department of Family Medicine, Jagiellonian University Medical College, Kraków, 31-061, Poland.
Background: The COVID-19 pandemic has caused psychological distress to the population and healthcare workers. Physicians' well-being is essential and contributes significantly to overall health. This study aimed to assess the strain on Polish general practitioners from the effects of the COVID-19 pandemic and to ascertain the potential predictors of their distress.
View Article and Find Full Text PDFJ Pediatr Nurs
January 2025
Department of Health Promotion and Disease Prevention, College of Nursing, University of Tennessee Health Science Center, 847 Union Ave, Memphis, TN 38163, USA.
Purpose: This study examined parenting stress and child special healthcare needs to child neurocognitive development (NCD).
Design And Methods: This secondary analysis used data from the primary study, a longitudinal cohort study of mother-child dyads. Multivariable regression models examined the associations between parenting stress and child special healthcare needs with NCD.
Z Evid Fortbild Qual Gesundhwes
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Department Digital Health Sciences and Biomedicine, School of Life Sciences, University of Siegen, Siegen, Germany.
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View Article and Find Full Text PDFAm J Clin Nutr
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Division of Pediatric Gastroenterology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States; USDA Children's Nutrition and Research Center, Houston, TX, United States. Electronic address:
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