Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

@article{Caetano2014AutosomalRA,
  title={Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.},
  author={Joana Caetano and C{\'a}rmen Costa and Jonathan Baets and Madgalena Zimon Phd and Margarida Ven{\^a}ncio Phd and Jorge Saraiva Phd and Lu{\'i}s Negr{\~a}o and Isabel Fineza},
  journal={Pediatric neurology},
  year={2014},
  volume={50 1},
  pages={
          104-7
        }
}
BACKGROUND Autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the HINT1 gene, encoding histidine triad nucleotide-binding protein 1. PATIENT The authors report a Portuguese 16-year-old girl of Roma ethnicity, descendant of consanguineous parents, with progressive distal muscular atrophy and weakness, beginning at age 6. After several years of extensive investigation with inconclusive results, clinical myotonia was identified… 
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy
TLDR
This study confirms ARANNM in the Chinese population for the first time and describes novel mutations of HINT1 in three Chinese patients with ARannM from unrelated families, which can help expand the genotypic spectrum of Hint1 mutations.
Axonal neuropathy with neuromyotonia: there is a HINT
TLDR
Recommendations to recognize and differentiate HINT1-neuropathy are proposed and strategies to treat common symptoms are suggested.
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.
TLDR
Based on the clinical presentation and molecular genetic analyses, ARAN-NM was diagnosed in both patients and NM_005340.6: c.112T > C; p.)Cys38Arg; and HINT1 gene were believe to be causative for the disorder.
Autosomal recessive axonal neuropathy with neuromyotonia
  • Definitions
  • 2020
Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States
TLDR
This case illustrates the importance of identifying the correct phenotype to avoid unnecessary and costly evaluations and should be distinguished clinically and genetically from myotonic dystrophy and channelopathies with the clinical features of neuromyotonia and an axonal neuropathy.
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
TLDR
Overall, mutations in the HINT1 gene seem to be a surprisingly frequent cause of inherited neuropathy in the authors' group of patients, and are probably the mostrequent cause of HMN in Czech patients.
Novel loss‐of‐function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia
TLDR
A patient with distal motor axonal neuropathy without neuromyotonia due to a new mutation of the HINT1 gene is described, which leads to a premature stop codon with loss of critical protein domains, and its pathogenicity was supported by in silico predictions.
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies
TLDR
The results support that HINT1-related neuropathies are not homogeneously distributed among European populations, which may be explained by founder effects, and underlines the importance of considering the ethnic background when screening for mutations in neuropathy-related genes.
The expanding genetic landscape of hereditary motor neuropathies.
TLDR
The genetic spectrum of hereditary motor neuropathies is provided, highlighting recent reports of novel genes and mutations or recent discoveries in the underlying disease mechanisms by addressing the main affected pathways of disease divided into five major processes.
Myopathy in a patient with systemic AA amyloidosis possibly induced by psoriasis vulgaris: An autopsy case
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A 46‐year‐old man with psoriasis vulgaris who presented with idiopathic upper and lower limb weakness and was eventually diagnosed with hypertrophic cardiomyopathy is described, which is an extremely rare autopsy case of myopathy in a patient with systemic AA amyloidosis.
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