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Dominant variants in <jats:italic>ITPR3<\/jats:italic> have recently been recognized as a rare cause of intermediate Charcot\u2013Marie\u2013Tooth disease (CMT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected the clinical data of a family with autosomal dominant neuropathy whose proband was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) for many years. The genetic diagnosis was achieved by whole exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband developed symmetrical sensory\u2013motor neuropathy with demyelinating features at 32\u2009years old. He was diagnosed with CIDP and received numerous immunomodulatory treatments. However, his condition progressed, leading to severe proximal leg and hand atrophy that confined him to a wheelchair at 60\u2009years. The patient's two sons began to exhibit symptoms suggestive of neuropathy shortly after age 30\u2009years, and the condition was reoriented as inherited. Exome sequencing identified a heterozygous c.4271C\u2009&gt;\u2009T variant in the <jats:italic>ITPR3<\/jats:italic> gene segregating with the disease. Nerve conduction studies showed a combination of demyelinating and axonal features that vary by nerve, disease duration, and patient. A uniform thickening of the nerves was identified on nerve echography, as was distal symmetric fatty infiltration in lower limb muscle imaging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The c.4271C\u2009&gt;\u2009T <jats:italic>ITPR3<\/jats:italic> variant causes a late onset CMT that can be considered an intermediate CMT. Considering the electrophysiological findings and the distribution of IP<jats:sub>3<\/jats:sub>R3, we hypothesize that this variant could start as nodal dysfunction that progresses to widespread nerve degeneration.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16485","type":"journal-article","created":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T13:14:11Z","timestamp":1726578851000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>ITPR3<\/i><\/scp>\u2010associated neuropathy: Report of a further family with adult onset intermediate Charcot\u2013Marie\u2013Tooth disease"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6795-5854","authenticated-orcid":false,"given":"Javier","family":"Cabello\u2010Murgui","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe  Valencia 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