Please use this identifier to cite or link to this item:
10.2478/prolas-2022-0035
Title: | Phenotypic variability and diagnostic characteristics in inherited peripheral neuropathy in Latvia |
Authors: | Millere, Elīna Kupats, Einārs Mičule, Ieva Gailīte, Linda Ķēniņa, Viktorija Department of Paediatrics Scientific Laboratory of Molecular Genetics Department of Doctoral Studies Department of Biology and Microbiology |
Keywords: | Charcot-Marie-Tooth disease;diagnosis;genetic;phenotype;3.2 Clinical medicine;3.1 Basic medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;General |
Issue Date: | 2022 |
Citation: | Millere , E , Kupats , E , Mičule , I , Gailīte , L & Ķēniņa , V 2022 , ' Phenotypic variability and diagnostic characteristics in inherited peripheral neuropathy in Latvia ' , Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences , vol. 76 , no. 2 , pp. 232-238 . https://doi.org/10.2478/prolas-2022-0035 |
Abstract: | 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. |
Description: | Publisher Copyright: © Latvian Academy of Sciences. |
DOI: | 10.2478/prolas-2022-0035 |
ISSN: | 1407-009X |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
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Phenotypic_variability.pdf | 1.09 MB | Adobe PDF | View/Open |
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