{
  "abstract": "Inherited peripheral neuropathies (IPNs) represent a clinically and genetically heterogeneous group of disorders affecting sensory, motor, autonomic functions, and can also present as a part of complex neurogenetic syndromes. Charcot-Marie-Tooth disease (CMT) is the most prevalent type of IPN. Despite advances in genetic testing, the diagnostic process remains challenging due to genetic heterogeneity and overlapping clinical phenotypes. We performed a comprehensive genetic evaluation of 126 patients presenting with symptoms of IPN. Nineteen patients with a typical CMT phenotype were initially screened for PMP22 copy number variations using Multiplex Ligation-dependent Probe Amplification (MLPA). Whole-exome sequencing (WES) was subsequently performed in 107 patients. Of these, 72 (63.7%) were classified as pathogenic or likely pathogenic, including 36 novel variants (50.0%), yielding an overall WES diagnostic rate of 62.6% (67/107). CMT-spectrum disorders identified by MLPA (n = 19 patients) and WES (n = 33 patients) accounted for 41.3% (52/126) of the study cohort. Additional diagnoses included hereditary sensory neuropathy 3.97% (5/126), distal hereditary motor neuropathy 4.76% (6/126), spastic paraplegia 3.97% (5/126), spinocerebellar ataxia 5.56% (7/126), spastic ataxia 8.73% (11/126), mitochondrial disease 7.94% (10/126), and other complex neurogenetic disorders 23.81% (30/126). Our findings highlight the utility of genomic sequencing approaches for resolving clinically heterogeneous neuropathy presentations and demonstrate the value of WES in a highly consanguineous Iranian cohort. These results support the role of WES in advancing precision medicine approaches for inherited neuropathies.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.",
    "Department of Biology, Mashhad Branch, Islamic Azad University, Mashhad, Iran.",
    "Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.",
    "Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.",
    "Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran. eghayoor@gmail.com.",
    "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. eghayoor@gmail.com.",
    "Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany. barbara.vona@med.uni-goettingen.de.",
    "Auditory Neuroscience and Optogenetics Laboratory, German Primate Center, Göttingen, Germany. barbara.vona@med.uni-goettingen.de.",
    "Collaborative Research Center 1690 (CRC 1690), University of Göttingen, Göttingen, Germany. barbara.vona@med.uni-goettingen.de.",
    "Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. barbara.vona@med.uni-goettingen.de.",
    "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. barbara.vona@med.uni-goettingen.de."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Paria Najarzadeh Torbati"
    },
    {
      "affs": [
        2
      ],
      "name": "Reza Boostani"
    },
    {
      "affs": [
        0
      ],
      "name": "Mojtaba Safi"
    },
    {
      "affs": [
        3
      ],
      "name": "Najmeh Ahangari"
    },
    {
      "affs": [
        0
      ],
      "name": "Mohammad Doosti"
    },
    {
      "affs": [
        0
      ],
      "name": "Hasan Badpar"
    },
    {
      "affs": [
        3
      ],
      "name": "Mehran Beiraghi Toosi"
    },
    {
      "affs": [
        4,
        5
      ],
      "name": "Ehsan Ghayoor Karimiani"
    },
    {
      "affs": [
        6,
        7,
        8,
        9,
        10
      ],
      "name": "Barbara Vona",
      "orcid": "0000-0002-6719-3447"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0ewje91h3652z.bib",
  "cited_by": 0,
  "doi": "10.1007/s10048-026-00952-w",
  "fulltext_url": "https://europepmc.org/articles/PMC13719752",
  "id": "0ewje91h3652z",
  "issns": [
    "1364-6745",
    "1364-6753"
  ],
  "landing_url": "https://europepmc.org/article/MED/42955121",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Research"
    ],
    [
      "openalex",
      "2804|Hereditary Neurological Disorders"
    ]
  ],
  "openalex": "W7224331185",
  "pdf_url": "https://europepmc.org/articles/PMC13719752?pdf=render",
  "pmcid": "PMC13719752",
  "pmid": "42955121",
  "published": "2026-10-29",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/0ewje91h3652z.ris",
  "sources": [
    {
      "first_seen": "2026-11-01T00:20:36Z",
      "native_id": "MED:42955121",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42955121"
    },
    {
      "first_seen": "2026-11-02T12:23:39Z",
      "native_id": "PMC13719752",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s10048-026-00952-w"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2804|Hereditary Neurological Disorders",
      "subfield": "neuroscience"
    }
  ],
  "title": "Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing.",
  "title_text": "Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:20:45Z",
  "url": "https://research.draconitic.com/paper/0ewje91h3652z",
  "venue": "Neurogenetics",
  "versions": []
}