Phenotypic variability and diagnostic characteristics in inherited peripheral neuropathy in Latvia

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dc.contributor.authorMillere, Elīna
dc.contributor.authorKupats, Einārs
dc.contributor.authorMičule, Ieva
dc.contributor.authorGailīte, Linda
dc.contributor.authorĶēniņa, Viktorija
dc.contributor.institutionDepartment of Paediatrics
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.contributor.institutionDepartment of Doctoral Studies
dc.contributor.institutionDepartment of Biology and Microbiology
dc.date.accessioned2023-03-13T13:20:01Z
dc.date.available2023-03-13T13:20:01Z
dc.date.issued2022
dc.descriptionPublisher Copyright: © Latvian Academy of Sciences.
dc.description.abstractInherited 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.en
dc.description.statusPeer reviewed
dc.format.extent7
dc.format.extent1116214
dc.identifier.citationMillere, 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
dc.identifier.doi10.2478/prolas-2022-0035
dc.identifier.issn1407-009X
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/10976
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85142208597&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofProceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCharcot-Marie-Tooth disease
dc.subjectdiagnosis
dc.subjectgenetic
dc.subjectphenotype
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGeneral
dc.titlePhenotypic variability and diagnostic characteristics in inherited peripheral neuropathy in Latviaen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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