A rare case of acute motor axonal neuropathy and myelitis related to SARS-CoV-2 infection
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurology"
DOI: 10.1007/s00415-020-10219-5
Abstract: We describe a rare case of post-infective Acute Motor Axonal Neuropathy (AMAN) variant of Guillain-Barrè Syndrome (GBS) associated with myelitis and anti-GD1b positivity after SARS-CoV-2 infection. The patient referred to the hospital reporting a history… read more here.
Keywords: rare case; axonal neuropathy; acute motor; sars cov ... See more keywords
A case of acute motor and sensory axonal neuropathy mimicking brain death
Sign Up to like & getrecommendations! Published in 2021 at "Neurological Sciences"
DOI: 10.1007/s10072-021-05051-2
Abstract: The sudden onset of muscle weakness and a flaccid paralysis can be due to several causes, such as polyneuropathies, myelopathies [1], myopathies or neuromuscular junction dysfunction [2]. The most common etiologies are infectious, inflammatory or… read more here.
Keywords: axonal neuropathy; case; sensory axonal; acute motor ... See more keywords
Two novel mutations in the GAN gene causing giant axonal neuropathy
Sign Up to like & getrecommendations! Published in 2018 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-018-0140-z
Abstract: BackgroundGiant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by… read more here.
Keywords: axonal neuropathy; mutations gan; novel mutations; two novel ... See more keywords
Bilateral spinal anterior horn lesions in acute motor axonal neuropathy
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.05.009
Abstract: BACKGROUND Guillain-Barré syndrome is an acute immune-mediated peripheral polyneuropathy. Neuroimaging findings from patients with this syndrome have revealed gadolinium enhancement in the cauda equina and in the anterior and posterior nerve roots, but intra-spinal lesions… read more here.
Keywords: axonal neuropathy; horn lesions; acute motor; motor ... See more keywords
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.05.003
Abstract: Autosomal recessive axonal neuropathy with neuromyotonia (ARANNM) is a rare disease caused by mutations of histidine triad nucleotide binding protein 1 (HINT1) gene. ARANNM has been reported mainly in European countries but little reported so… read more here.
Keywords: axonal neuropathy; novel mutations; hint1 gene; autosomal recessive ... See more keywords
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100528
Abstract: We report on a homozygote missense SCO2 mutation (p.Arg255Trp) in two sibs with cerebellar ataxia, progressive peripheral axonal neuropathy and long survival. While most patients reported so far presented with severe COX deficiency and fatal… read more here.
Keywords: cerebellar ataxia; sco2; axonal neuropathy; control values ... See more keywords
Post malaria acute motor axonal neuropathy.
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DOI: 10.1093/jtm/taac056
Abstract: We report herein the first case of acute motor axonal neuropathy syndrome after severe Plasmodium falciparum malaria in a traveller, diagnosed through neurophysiological findings and high level of neurofilaments light chain in cerebrospinal fluid analysis,… read more here.
Keywords: motor axonal; post malaria; axonal neuropathy; acute motor ... See more keywords
Clinical and Electrophysiological Features of Chronic Motor Axonal Neuropathy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neurophysiology"
DOI: 10.1097/wnp.0000000000000771
Abstract: PURPOSE To determine the clinical and electrophysiological characteristics of chronic motor axonal neuropathy (CMAN) and identify the associated similarities and differences between CMAN, acute motor axonal neuropathy (AMAN), and motor neuropathy secondary to amyotrophic lateral… read more here.
Keywords: split; chronic motor; axonal neuropathy; motor ... See more keywords
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0957-5
Abstract: Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO) mouse models mirror the IF dysregulation and widespread nervous… read more here.
Keywords: inclusion bodies; epithelial cells; lens epithelial; giant axonal ... See more keywords
Genetics and adult-onset chronic idiopathic axonal neuropathy
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DOI: 10.1212/wnl.0000000000011133
Abstract: Idiopathic is used to characterize disorders for which we know neither the cause nor pathogenesis. While “idiopathic” may sound more scientific than simply confessing “I don't know,” it really does not address patient concerns such… read more here.
Keywords: chronic idiopathic; idiopathic axonal; axonal neuropathy; genetics ... See more keywords
Clinical Spectrum and Prognosis in Patients With Acute Nutritional Axonal Neuropathy
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DOI: 10.1212/wnl.0000000000207215
Abstract: Background and Objectives To describe the clinical, micronutrient, and electrophysiologic spectra and prognosis in patients with acute nutritional axonal neuropathy (ANAN). Methods Patients with ANAN were identified between 1999 and 2020 by a retrospective review… read more here.
Keywords: thiamine; axonal neuropathy; spectrum; prognosis patients ... See more keywords