Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with a low prevalence, for which more than 50 types have been described. This group of neurodegenerative diseases can present as different phenotypes with varying progression rates and clinical manifestations of different severities. Herein, we systematically reviewed existing medical literature to describe the main characteristics of polyneuropathy in patients with SCA types 2, 3, and 10. Using relevant keywords, 16,972 articles were identified from the databases. Of these, 5,329 duplicate studies were excluded before screening. Subsequently, 11,643 studies underwent title and abstract review, of which only 49 were selected for full-text review. Among these, 24 studies were included. The medical literature suggests peripheral neuropathy - probably in a polyneuropathy phenotype - in SCA types 2 and 3. It is not possible to determine whether there is peripheral neuropathy in patients with SCA type 10, as there is only one case series in Mexico that described peripheral neuropathy in this group. Further studies are required to investigate peripheral neuropathy in patients with SCA types 2, 3, and 10. The study and description of a possible statistical association between CAG repeats and SARA scale scores with the presence of peripheral neuropathy are important points requiring assessment in future research.
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Alzheimers Dement
December 2024
VA Boston Healthcare System, Jamaica Plain, MA, USA.
Background: Mixed dementia type - Alzheimer's Disease (AD), cerebral amyloid angiopathy (CAA), and vascular - is vastly recognized as a cause of dementia in older adults. Whereas CAA, primarily leptomeningeal, is a frequent complication in hereditary transthyretin cardiac amyloidosis (TTRCA), it is unusually reported in association with wild-type TTR, with or without polyneuropathy. The knowledge of mixed dementia and wild-type TTR association is even scarcer.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, Eastern Virginia Medical School, Norfolk, USA.
Metronidazole is a broad-spectrum antimicrobial that is associated with 0.16% 100-day incidence rates for peripheral neuropathy. In this report, we present an interesting and rare presentation of peripheral neuropathy secondary to metronidazole use for bacteremia and sepsis in a patient with end-stage renal failure.
View Article and Find Full Text PDFCureus
December 2024
Trauma and Orthopaedics, Gateshead Health National Health Services (NHS) Foundation Trust, Gateshead, GBR.
Introduction Diabetes is a rapidly growing global health concern, with the World Health Organization (WHO) estimating that 300 million adults will have diabetes by 2025. This chronic condition is associated with complications, including nephropathy, retinopathy, neuropathy, cardiovascular disease, and diabetic foot ulcers (DFUs), which can lead to amputation. Diabetic septic foot (DSF), a severe form of diabetic foot disease, is defined by the WHO as the presence of infection, ulceration, or tissue destruction in the lower limb, often accompanied by neurological abnormalities, peripheral vascular disease, and metabolic complications of diabetes.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Background: Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms.
View Article and Find Full Text PDFNat Commun
January 2025
Institute of Developmental Biology and Neurobiology, Faculty of Biology, Johannes Gutenberg University Mainz, Mainz, Germany.
After a peripheral nerve injury, Schwann cells (SCs), the myelinating glia of the peripheral nervous system, convert into repair cells that foster axonal regrowth, and then remyelinate or re-ensheath regenerated axons, thereby ensuring functional recovery. The efficiency of this mechanism depends however on the time needed for axons to regrow. Here, we show that ablation of histone deacetylase 8 (HDAC8) in SCs accelerates the regrowth of sensory axons and sensory function recovery.
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