Phenotypic variability and diagnostic characteristics in inherited peripheral neuropathy in Latvia

Elīna Millere (Coresponding Author), Einārs Kupats, Ieva Mičule, Linda Gailīte, Viktorija Ķēniņa

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Inherited peripheral neuropathies (IPN) are a clinically and genetically heterogeneous group of disorders. The most common IPN is Charcot-Marie-Tooth (CMT) disease. Here we describe IPN clinical variability and diagnostic characteristics in the Latvian population. A total of 101 patients were enrolled in the study. Genetic testing consisted of PMP22 copy number analysis and whole-exome sequencing (WES). Clinical assessment comprised CMT Neuropathy Score version 2 (CMTNSv2), CMT Examination Score, pain, anxiety and memory/cognitive ability testing. The diagnostic yields for PMP22 copy number detection and WES were 45.8% and 77.8%, respectively. Disease severity assessment indicated high clinical heterogeneity, with CMTNSv2 scores ranging between 0 and 33. More than one-third of patients reported pain, and it was found to be significantly more common in patients with at least a mild anxiety level. From the initial development of symptoms, on average, it took more than 13 years for a diagnosis of IPN to be confirmed. This study updates the IPN genetic and clinical profile of the Latvian population and demonstrates the presence of a high level of heterogeneity. The time to diagnosis for IPN patients needs to be improved by employing multiplex ligation-dependent probe amplification initially followed by WES.

Original languageEnglish
Pages (from-to)232-238
Number of pages7
JournalProceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
Issue number2
Publication statusPublished - 2022


  • Charcot-Marie-Tooth disease
  • diagnosis
  • genetic
  • phenotype

Field of Science*

  • 3.2 Clinical medicine
  • 3.1 Basic medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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