Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.

Cohort studyJournal of the peripheral nervous system : JPNS· Sep 2026

Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.

Milica Vukojevic, Ana Marjanovic, Vukan Ivanovic … Stojan Peric

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NeurologyCohort studyDiagnosisQ2IF 2.8

Charcot-Marie-Tooth disease type 1A is the most common hereditary neuropathy in Serbia.

Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.

Milica Vukojevic … Stojan Peric

Journal of the peripheral nervous system · Sep 2026 · Q2 in Neurology

Background

Hereditary neuropathies are a group of genetically and phenotypically heterogeneous neuropathies.

Purpose

The aim of this study was to determine final diagnoses in patients referred from the tertiary center in Serbia under suspicion of hereditary neuropathy.

Methods

This research included 340 patients directed for genetic testing from the Neurology Clinic, University Clinical Center of Serbia during the period from 2009 to 2023, who underwent complete genetic analyses available.

n = 340 patients

27.3%

Results

27.3%

the highest proportion of patients diagnosed with Charcot-Marie-Tooth disease type 1A

n = 340 patients

More results

In the group of patients with axonal form of the disease, the most prevalent was the one with pathogenic variant in HINT1 (18 (5.3%)).

Nineteen (5.6%) patients have had variants in GJB1 gene.

DMN group was composed of seven (2%) patients.

More results

In 70 (20.6%) patients no significant genetic variant was found, even though clinical presentation was highly suggestive of hereditary neuropathy.

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Conclusion · 1 of 2

In line with other populations, CMT1A was the most common cause of hereditary neuropathy in Serbia. The axonal cohort predominantly included patients with variants in the HINT1 gene, which represents a population-specific characteristic.

Conclusion · 2 of 2

These findings highlight the importance of targeted genetic analysis in diagnosing hereditary neuropathies in certain populations.

Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.

Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.

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