Phenotypic Variability and Diagnostic Characteristics in Inherited Peripheral Neuropathy in Latvia
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Published:2022-04-01
Issue:2
Volume:76
Page:232-238
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ISSN:2255-890X
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Container-title:Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
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language:en
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Author:
Millere Elīna123, Kupats Einārs4, Mičule Ieva5, Gailīte Linda2, Ķēniņa Viktorija67
Affiliation:
1. Department of Doctoral Studies , Rīga Stradiņš University , Rīga , , Latvia 2. Scientific Laboratory of Molecular Genetics , Rīga Stradiņš University , Rīga , , Latvia 3. Department of Pediatrics , Rīga Stradiņš University , Rīga , , Latvia 4. Department of Neurology , Rīga East Clinical University Hospital , Rīga , , Latvia 5. Clinic of Medical Genetics and Prenatal Diagnostics , Children’s Clinical University Hospital , Rīga , , Latvia 6. Department of Biology and Microbiology , Rīga Stradiņš University , Rīga , , Latvia 7. Rare Disease Centre , Rīga East Clinical University Hospital, Rīga , , Latvia
Abstract
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.
Publisher
Walter de Gruyter GmbH
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