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Abstract
Objectives. HINT1 variants are associated with autosomal recessive axonal neuropathy with neuromyotonia. Patients with the HINT1 gene variant demonstrate gradual development of motor-greater- than-sensory polyneuropathy, over time, hand muscle relaxation difficulties develop.
The majority of patients are compound heterozygous or homozygous for a Slavic founder variant (c.110G > C, p.Arg37Pro). In Latvia, the frequency of variant p.Arg37Pro is the highest known so far.
This is the first systematic assessment of HINT1 neuropathy in Latvia.
Materials and Methods. All patients diagnosed with axonal neuropathy with neuromyotonia (HINT1— neuropathy) in Latvia (n = 10) from geneticists, neurologists and paediatric neurologists’ clinical practices were recruited into this study. Axonal neuropathy with neuromyotonia was diagnosed based on clinical symptoms, a neurophysiological examination and positive genetic testing.
Results. To assess the phenotypes of HINT1 neuropathy patients, we analyzed 10 patients diagnosed with axonal neuropathy with neuromyotonia—2 male and 8 female—with ages ranging from 13 to 64 years. In all cases, nerve conduction velocities were nearly normal, with a severe decrease in motor amplitudes, and concentric needle EMG displayed neuromyotonic discharges. In the patient group with pure motor
axonal neuropathy, myotonic symptoms in the legs were more severe, with spastic gait disturbances. Ultrasonography was performed on 4 patients out of 10 who had HINT1 neuropathy. The nerve cross- sectional areas of the median and ulnar nerves were closer to the lower limits of the normal value. None of the investigated nerves had structural changes. In all patients with HINT1 neuropathy, ultrasound examination
showed significantly reduced muscle volume as well as spontaneous fasciculations and fibrillations. Conclusions. Our study is the first detailed ultrasonographic evaluation of patients with HINT1 axonal polyneuropathy. The best-known and most widespread disease-associated variant is p.Arg37Pro. Overall, the genetic epidemiology suggests that HINT1 neuropathy should be considered in the diagnostic work-up
of patients of European descent presenting with axonal CMT.
The majority of patients are compound heterozygous or homozygous for a Slavic founder variant (c.110G > C, p.Arg37Pro). In Latvia, the frequency of variant p.Arg37Pro is the highest known so far.
This is the first systematic assessment of HINT1 neuropathy in Latvia.
Materials and Methods. All patients diagnosed with axonal neuropathy with neuromyotonia (HINT1— neuropathy) in Latvia (n = 10) from geneticists, neurologists and paediatric neurologists’ clinical practices were recruited into this study. Axonal neuropathy with neuromyotonia was diagnosed based on clinical symptoms, a neurophysiological examination and positive genetic testing.
Results. To assess the phenotypes of HINT1 neuropathy patients, we analyzed 10 patients diagnosed with axonal neuropathy with neuromyotonia—2 male and 8 female—with ages ranging from 13 to 64 years. In all cases, nerve conduction velocities were nearly normal, with a severe decrease in motor amplitudes, and concentric needle EMG displayed neuromyotonic discharges. In the patient group with pure motor
axonal neuropathy, myotonic symptoms in the legs were more severe, with spastic gait disturbances. Ultrasonography was performed on 4 patients out of 10 who had HINT1 neuropathy. The nerve cross- sectional areas of the median and ulnar nerves were closer to the lower limits of the normal value. None of the investigated nerves had structural changes. In all patients with HINT1 neuropathy, ultrasound examination
showed significantly reduced muscle volume as well as spontaneous fasciculations and fibrillations. Conclusions. Our study is the first detailed ultrasonographic evaluation of patients with HINT1 axonal polyneuropathy. The best-known and most widespread disease-associated variant is p.Arg37Pro. Overall, the genetic epidemiology suggests that HINT1 neuropathy should be considered in the diagnostic work-up
of patients of European descent presenting with axonal CMT.
| Original language | English |
|---|---|
| Pages (from-to) | 262 -262 |
| Number of pages | 1 |
| Journal | Medicina (Kaunas) |
| Volume | 59 |
| Issue number | Suppl.2 |
| Publication status | Published - 2023 |
| Event | RSU International Research Conference 2023: Knowledge for Use in Practice - Rīga Stradiņš University & online, Riga, Latvia Duration: 29 Mar 2023 → 31 Mar 2023 https://rw2023.rsu.lv/events/rsu-international-research-conference-knowledge-use-practice https://rw2023.rsu.lv/conferences/knowledge-use-practice |
Field of Science*
- 3.1 Basic medicine
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)
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HINT1 Neuropathy in Latvia: Clinical, Genetic, and Functional Profiling
Rozevska, M. (Speaker), Rots, D. (Co-author), Gailīte, L. (Co-author), Linde, R. (Co-author), Mironovs, S. (Co-author), Timčenko, M. (Co-author), Ļiņovs, V. (Co-author), Locmele, D. (Co-author), Mičule, I. (Co-author), Lāce, B. (Co-author) & Ķēniņa, V. (Co-author)
29 Mar 2023Activity: Talk or presentation types › Poster presentation