Histopathology of the Human Inner Ear in Alström's Syndrome.

Document Type

Article

Publication Date

2015

JAX Source

Audiol Neurotol 2015 20:267-272.

Volume

20

Issue

4

First Page

267

Last Page

272

ISSN

1421-9700

PMID

26111748

Grant

HD036878

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. © 2015 S. Karger AG, Basel. Audiol Neurotol 2015 20:267-272.

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