Single-gene neurological disorders account for a significant proportion of the work load of any regional genetics unit. In an attempt to assess the likely impact of recombinant DNA technology on these debilitating diseases, a population prevalence study of the major neurogenetic diseases was carried out in the South Wales region of Great Britain. The minimum overall prevalence of these disorders was estimated to be 58.6/100,000 population.
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Diagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
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Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.
Adv Genet (Hoboken)
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Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.
Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in , coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness.
View Article and Find Full Text PDFClinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.
JAMA Pediatr
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Department of Child Health, University of Arizona, Phoenix.
Importance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.
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