title: Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism.
abstract: Spermiograms were performed in two young patients with cerebellar ataxia, one familial and the other sporadic. The subjects did not have endocrine abnormalities, but there was MRI evidence of cerebellar atrophy. Light and electron microscope examination revealed sperm abnormalities similar to those described in Purkinje cell degeneration (PCD). PCD is an autosomal recessive mutation observed only in the mouse, characterized by mild ataxia due to the postnatal degeneration of cerebellar Purkinje cells and male sterility due to morphological sperm abnormalities.
authors.affiliation: Institute for Neurological Sciences, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: P
authors.initials: P
authors.lastname: Piomboni
authors.forename: G
authors.initials: G
authors.lastname: Collodel
authors.forename: M
authors.initials: M
authors.lastname: Spadaro
authors.forename: P
authors.initials: P
authors.lastname: Giunti
authors.forename: C
authors.initials: C
authors.lastname: Salvadori
authors.forename: C
authors.initials: C
authors.lastname: Morocutti
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000328:Adult; D001284:Atrophy / Q000150:complications; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics; D002540:Cerebral Cortex / Q000473:pathology* / Q000648:ultrastructure; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000150:complications / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics; D011689:Purkinje Cells / Q000473:pathology; D013094:Spermatozoa / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure