Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM)
Evidence-based neurology checklist on autosomal recessive axonal neuropathy with neuromyotonia (aran-nm): Genetics This is caused by mutations in the HINT1 gene It is most prevalent in central and south-Eastern Europe The transmission is autosomal recessive Onset features Neuromuscular features…
Genetics
- This is caused by mutations in the HINT1 gene
- It is most prevalent in central and south-Eastern Europe
- The transmission is autosomal recessive
Onset features
Neuromuscular features
Psychiatric features
Other features
Differential diagnosis
Neurophysiology
Treatment
Acronym
References
- Caetano JS, Costa C, Baets J, et al. Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity. Pediatr Neurol 2014; 50:104-107.
- Zimoń M, Baets J, Almeida-Souza L, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 2012; 44:1080-1083.
- Peeters K, Chamova T, Tournev I, Jordanova A. Axonal neuropathy with neuromyotonia: there is a HINT. Brain 2017; 140:868-877.
- Rozevska M, Rots D, Gailite L, et al. The most common European HINT1 neuropathy variant phenotype and its case studies. Front Neurol 2023; 14:1084335.
- Rauchenzauner M, Frühwirth M, Hecht M, Kofler M, Witsch-Baumgartner M, Fauth C. A novel variant in the HINT1 gene in a girl with autosomal recessive axonal neuropathy with neuromyotonia: thorough neurological examination gives the clue. Neuropediatrics 2016; 47:119-122.
- And 5 more. Subscribe to see the full list
