title: Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
abstract: We report a 36-year-old patient with 46XY pure gonadal dysgenesis (GD), who manifested a syndrome of progressive motor-sensory neuropathy. Sural nerve biopsy showed severe axonal neuropathy. Since reported cases of chronic motor-sensory neuropathy and pure gonadal dysgenesis have been characterized by nerve biopsy evidence of minifascicle formation, we suggest that this clinical association may be a new type of hereditary motor-sensory neuropathy, not necessarily associated with minifascicle formation.
authors.affiliation: Unit of Neurometabolic Disease, Department of Neurological and Behavioural Sciences, University of Siena, Italy. malandrini@unisi.it
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.forename: Simona
authors.initials: S
authors.lastname: Gambelli
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Gianna
authors.initials: G
authors.lastname: Berti
authors.forename: Carmen
authors.initials: C
authors.lastname: Gaudiano
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Kazuma
authors.initials: K
authors.lastname: Sugie
authors.forename: Fujio
authors.initials: F
authors.lastname: Umehara
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001369:Axons / Q000473:pathology*; D001706:Biopsy; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000235:genetics; D053823:Hedgehog Proteins / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D013497:Sural Nerve / Q000473:pathology
chemical_list: C509245:DHH protein, human; D053823:Hedgehog Proteins