title: Histopathology of the human inner ear in Alström's syndrome.
abstract: Alström's syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater than 85% of patients. Histopathology of the inner ear abnormalities in the human has not previously been fully described. Histopathology of the inner ear in Alström's syndrome is presented in 2 genetically confirmed cases. The predominant histopathologic correlates of the sensorineural loss were degeneration of the organ of Corti, both inner and outer hair cells, degeneration of spiral ganglion cells, and atrophy of the stria vascularis and spiral ligament.
authors.affiliation: Otopathology Laboratory, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Mass., USA.
authors.forename: Joseph B
authors.initials: JB
authors.lastname: Nadol
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Roderick T
authors.initials: RT
authors.lastname: Bronson
mesh_terms: D000328:Adult; D056769:Alstrom Syndrome / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D001301:Audiometry, Pure-Tone; D007758:Ear, Inner / Q000473:pathology* / Q000503:physiopathology; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006199:Hair Cells, Auditory, Inner / Q000473:pathology; D018072:Hair Cells, Auditory, Outer / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009925:Organ of Corti / Q000473:pathology; D013136:Spiral Ganglion / Q000473:pathology; D055493:Spiral Ligament of Cochlea / Q000473:pathology; D013316:Stria Vascularis / Q000473:pathology