First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene
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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
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
Sign Up to like & getrecommendations! Published in 2019 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2018.1506937
Abstract: ABSTRACT Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) or Congenital Insensitivity to pain and Anhidrosis is an autosomal recessive condition. It is characterized by absence of reaction to painful stimuli, anhidrosis, self-mutilating behaviour and… read more here.
Keywords: autonomic neuropathy; corneal ulcers; sensory autonomic; recurrent corneal ... See more keywords
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15310
Abstract: Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, and vestibular… read more here.
Keywords: sensory autonomic; cough; repeat; cause ... See more keywords
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene
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DOI: 10.1111/jns.12352
Abstract: Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero‐mutilating complications. FAM134B gene, also known as RETREG1 gene,… read more here.
Keywords: autonomic neuropathy; sensory autonomic; report; hereditary sensory ... 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
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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
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000568
Abstract: Objective To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized… read more here.
Keywords: exome sequencing; sensory autonomic; whole exome; congenital sensory ... See more keywords
Phosphorylated α-Synuclein Deposits in Cutaneous Nerves of Early Parkinsonism.
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DOI: 10.3233/jpd-223421
Abstract: BACKGROUND The role of peripheral phosphorylated-α-Synuclein (p-α-syn) deposition on nerve degeneration in synucleinopathies is still unknown. OBJECTIVE To assess the cutaneous neural distribution of p-α-Syn deposits and its correlation with clinical data and with morphology… read more here.
Keywords: phosphorylated synuclein; sensory autonomic; motor; syn ... See more keywords
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
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DOI: 10.3389/fgene.2020.00492
Abstract: Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes.… read more here.
Keywords: sensory autonomic; chinese family; family; autonomic neuropathies ... See more keywords
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.986504
Abstract: Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies. The aim of this study was to… read more here.
Keywords: hereditary sensory; sensory autonomic; repeat; rfc1 repeat ... See more keywords
The NGF R100W Mutation, Associated with Hereditary Sensory Autonomic Neuropathy Type V, Specifically Affects the Binding Energetic Landscapes of NGF and of Its Precursor proNGF and p75NTR
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DOI: 10.3390/biology12030364
Abstract: Simple Summary A point mutation in the Nerve Growth factor gene (leading to the amino acid substitution R100W), causing Hereditary Sensory and Autonomic Neuropathy type V, a condition that primarily affects the sensory nerve cells,… read more here.
Keywords: hereditary sensory; sensory autonomic; r100w mutation; mutation ... See more keywords
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children
Sign Up to like & getrecommendations! Published in 2022 at "Neurology India"
DOI: 10.4103/0028-3886.338691
Abstract: Objectives: Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare disorders affecting the sensory and autonomic neurons. Herein, we describe the clinical and genetic profile of six children with HSAN. Methods: Hospital records… read more here.
Keywords: neuropathy case; six children; hereditary sensory; sensory autonomic ... See more keywords