Neuropathies or neuromyotonias related to the HINT1 gene are of recent discovery (2012). A group of French experts gathered under the aegis of FILNEMUS, the French Rare Health Care for Neuromuscular Diseases Network, compiled clinical, genetic and electrophysiological data from seven patients with this autosomal recessive form of hereditary neuropathy:
- The initial presentation was suggestive of either an axonal form of Charcot-Marie-Tooth disease (CMT) or a distal motor neuronopathy.
- Neuromyotonia was missing in half of the cases.
- Three of the six patients (one of Austrian origin, one of Kosovar origin, and one of French origin) were carriers of the homozygous pathological variant widely reported in the Russian and Eastern European population.
- Two patients had psychiatric disorders that the authors link to the disease and thus to HINT1 deficiency.
