{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:37:34Z","timestamp":1790613454272,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100005624","name":"Medizinischen Hochschule Hannover","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005624","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG ME 3696\/3"],"award-info":[{"award-number":["DFG ME 3696\/3"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,3]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background and Aims<\/jats:title>\n \n Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of\n DNAJB2<\/jats:italic>\n \u2010 and\n HINT1<\/jats:italic>\n \u2010related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non\u2010motor symptoms and quality of life (QoL) in affected individuals.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Six patients carrying two novel\n DNAJB2<\/jats:italic>\n variants and six age\u2010matched patients with\n HINT1<\/jats:italic>\n variants underwent detailed clinical and electrophysiological characterization. Motor function was assessed longitudinally using the Medical Research Council (MRC) scale. Non\u2010motor symptoms (neuropathic pain, autonomic dysfunction, depression, fatigue, restless legs syndrome) and QoL were evaluated with patient\u2010reported outcomes and compared to four healthy controls (HC).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Both patient groups exhibited a CMT2 phenotype. Nerve conduction studies revealed a length\u2010dependent axonal predominantly motor but not pure motor neuropathy in most of the patients. Disease onset tended to occur later in patients with\n DNAJB2<\/jats:italic>\n variants, who yet developed more severe neuropathy. The spectrum of additional clinical features differed between the two groups. All patients with\n DNAJB2<\/jats:italic>\n variants fulfilled criteria for depression, compared with one with a\n HINT1<\/jats:italic>\n variant. Significant fatigue was present in the majority of both groups, while restless legs syndrome was observed in four patients with a\n DNAJB2<\/jats:italic>\n variant but in none with a\n HINT1<\/jats:italic>\n . QoL was significantly reduced in\n DNAJB2<\/jats:italic>\n versus HC, with no difference in QoL between patients with\n DNAJB2<\/jats:italic>\n and\n HINT1<\/jats:italic>\n variants.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n This study expands the clinical spectrum of\n DNAJB2<\/jats:italic>\n \u2010 and\n HINT1<\/jats:italic>\n \u2010related neuropathies, highlighting distinct non\u2010motor features and their impact on QoL, and providing the first direct comparison of these two rare axonal disorders.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jns.70100","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T08:47:23Z","timestamp":1768812443000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on\n DNAJB2\u2010<\/i>\n and\n HINT1\u2010<\/i>\n Related Disease"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1783-703X","authenticated-orcid":false,"given":"Bogdan","family":"Bjelica","sequence":"first","affiliation":[{"name":"Department of Neurology Hannover Medical School Hannover Germany"},{"name":"PRACTIS Clinician Scientist Program, Dean's Office for Academic Career Development, Hannover Medical School Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Hendrich","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"von Hardenberg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milica","family":"Vukojevic","sequence":"additional","affiliation":[{"name":"Neurology 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