{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:32:35Z","timestamp":1747186355167,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T00:00:00Z","timestamp":1604448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Minifascicular neuropathy (MN) is a rare, autosomal recessive disease with prominent structural changes of peripheral nerves. So far, it has been observed in females with a 46,XY karyotype and mutations of the Desert Hedgehog (<jats:italic>DHH<\/jats:italic>) gene, thus linking MN to gonadal dysgenesis (GD) and disorders of sex development (DSD). However, a 46,XX proband with normal female sex and gender development underwent clinical evaluations, nerve conduction studies and genetic screening for a severe motor\u2010sensory neuropathy with a pathological phenotype that hinted at MN. Indeed, sural nerve biopsy revealed a profound disturbance of perineurium development with a thin and loose structure. High\u2010resolution ultrasound (HRUS) also disclosed diffuse changes of nerve echotexture that visibly correlated with the pathological features. After extensive genetic testing, a novel homozygous <jats:italic>DHH<\/jats:italic> null mutation (p.Ser185*) was identified in the proband and in her sister, who was affected by a similar motor\u2010sensory neuropathy, but was eventually found to be a 46,XY patient according to a late diagnosis of DSD with complete GD. <jats:italic>DHH<\/jats:italic> should therefore be considered as a possible cause of rare non\u2010syndromic hereditary motor\u2010sensory neuropathies, regardless of DSD. Furthermore, HRUS could effectively smooth the complex diagnostic workup as it demonstrated a high predictive power to detect MN, providing the same detailed correlations to the pathologic features of the nerve biopsy and <jats:italic>Dhh<\/jats:italic>\u2212\/\u2212 mice in both sisters. Hence, HRUS may assume a pivotal role in guiding molecular analysis in individuals with or without DSD.<\/jats:p>","DOI":"10.1111\/jns.12417","type":"journal-article","created":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T02:56:31Z","timestamp":1603767391000},"page":"423-428","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Convergent pathological and ultrasound features in hereditary syndromic and non\u2010syndromic minifascicular neuropathy related to <scp><i>DHH<\/i><\/scp>"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9293-9431","authenticated-orcid":false,"given":"Federica","family":"Boso","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences University of Verona  Verona Italy"},{"name":"Neurology Division Azienda Ospedaliera Universitaria Integrata Verona  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampietro","family":"Zanette","sequence":"additional","affiliation":[{"name":"Neurology Division Pederzoli Hospital  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fulvia","family":"Baldinotti","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Department of Laboratory Medicine Azienda Ospedaliera Universitaria Pisana  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvano","family":"Bertelloni","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Pediatrics Division, Department of Obstetrics, Gynecology and Pediatrics Azienda Ospedaliera Universitaria Pisana  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Taioli","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences University of Verona  Verona Italy"},{"name":"Neurology Division Azienda Ospedaliera Universitaria Integrata Verona  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Monaco","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences University of Verona  Verona Italy"},{"name":"Neurology Division Azienda Ospedaliera Universitaria Integrata Verona  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6804-0226","authenticated-orcid":false,"given":"Gian Maria","family":"Fabrizi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences University of Verona  Verona Italy"},{"name":"Neurology Division Azienda Ospedaliera Universitaria Integrata Verona  Verona 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