Demyelination in hereditary sensory neuropathy type‐1C
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51110
Abstract: Sphingolipids are enriched in the nerves. Serine‐palmitoyltransferase (SPT) catalyzes the key step of sphingolipids biosynthesis. Mutations in SPT subunits (SPTLC) lead to the excessive production of neurotoxic deoxysphingolipids (DoxSLs) in patients with Hereditary Sensory Neuropathy… read more here.
Keywords: sensory neuropathy; pathology; hereditary sensory; demyelination hereditary ... See more keywords
Serum lipidomic determinants of human diabetic neuropathy in type 2 diabetes
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51639
Abstract: The serum lipidomic profile associated with neuropathy in type 2 diabetes is not well understood. Obesity and dyslipidemia are known neuropathy risk factors, suggesting lipid profiles early during type 2 diabetes may identify individuals who… read more here.
Keywords: serum lipidomic; neuropathy type; diabetic neuropathy; type diabetes ... See more keywords
First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Neurological Sciences"
DOI: 10.1007/s10072-019-04179-6
Abstract: Dear Sirs, DNA methyltransferase 1 (DNMT1) is essential for many cellular functions including transcription regulation, cell differentiation, gene imprinting, and genome stability [1–3]. Mutations in the target sequence (TS) domain ofDNMT1 gene (chromosome 19p13.2) are… read more here.
Keywords: autonomic neuropathy; sensory autonomic; hereditary sensory; gene ... See more keywords
Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation.
Sign Up to like & getrecommendations! Published in 2022 at "DNA and cell biology"
DOI: 10.1089/dna.2021.0816
Abstract: Hereditary sensory neuropathy type 1A (HSN1A) is an autosomal, dominantly inherited peripheral neuropathy caused by mutations in serine palmitoyl transferase long chain 1 (SPTLC1), involved in the de novo synthesis of sphingolipids. We have previously… read more here.
Keywords: cell; hereditary sensory; cell model; neuropathy type ... See more keywords
Diagnostic accuracy of nerve ultrasonography for the detection of peripheral neuropathy in type 2 diabetes
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15534
Abstract: Nerve conduction studies (NCS) are the current objective measure for diagnosis of peripheral neuropathy in type 2 diabetes but do not assess nerve structure. This study investigated the utility of peripheral nerve ultrasound as a… read more here.
Keywords: peripheral neuropathy; neuropathy type; nerve; type diabetes ... See more keywords
Balance Analysis of Peripheral Neuropathy in Type 2 Diabetes Mellitus Based on Logistic Regression Equation
Sign Up to like & getrecommendations! Published in 2022 at "Scanning"
DOI: 10.1155/2022/2113758
Abstract: This paper analyzes the factors of peripheral neuropathy in type 2 diabetes mellitus and puts forward a balanced analysis of peripheral neuropathy in type 2 diabetes mellitus based on logistic regression equation. A total of… read more here.
Keywords: blood glucose; peripheral neuropathy; neuropathy type; type diabetes ... See more keywords
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-017-1387-z
Abstract: BackgroundHereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays… read more here.
Keywords: autonomic neuropathy; sensory autonomic; type viii; hereditary sensory ... See more keywords
Cardiovascular autonomic neuropathy in type 2 diabetic patients.
Sign Up to like & getrecommendations! Published in 2019 at "Revista da Associacao Medica Brasileira"
DOI: 10.1590/1806-9282.65.1.56
Abstract: Diabetes is one of the most common chronic pathologies around the world, involving treatment with general clinicians, endocrinologists, cardiologists, ophthalmologists, nephrologists and a multidisciplinary team. Patients with type 2 Diabetes Mellitus (T2DM) can be affected… read more here.
Keywords: autonomic neuropathy; type diabetic; diabetic patients; cardiovascular autonomic ... See more keywords
Cardiovascular Autonomic Neuropathy in Type 1 Diabetes Is Associated With Disturbances in TCA, Lipid, and Glucose Metabolism
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.831793
Abstract: Introduction Diabetic cardiovascular autonomic neuropathy (CAN) is associated with increased mortality and morbidity. To explore metabolic mechanisms associated with CAN we investigated associations between serum metabolites and CAN in persons with type 1 diabetes (T1D).… read more here.
Keywords: neuropathy type; cardiovascular autonomic; type diabetes; autonomic neuropathy ... See more keywords
Differences and Similarities in Neuropathy in Type 1 and 2 Diabetes: A Systematic Review
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm11030230
Abstract: Background: Diabetic neuropathy is defined as the dysfunction of the peripheral nervous system in diabetic patients. It is considered a microvascular complication of diabetes mellitus. Its presence is associated with increased morbidity and mortality. Although… read more here.
Keywords: sensitivity; diabetic patients; type diabetes; diabetes patients ... See more keywords
A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical neuropathology"
DOI: 10.5414/np301457
Abstract: OBJECTIVE Spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3) is a very rare autosomal recessive hereditary disease. Mutations in the COA7 gene, which encodes cytochrome c oxidase assembly factor 7, have been recently reported as… read more here.
Keywords: ataxia axonal; axonal neuropathy; neuropathy type; spinocerebellar ataxia ... See more keywords