| 1. |
- Kimberling, William J., et al.
(författare)
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Usher syndrome : clinical findings and gene localization studies
- 1989
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Ingår i: The Laryngoscope. - : Wiley. - 0023-852X .- 1531-4995. ; 99:1, s. 66-72
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Tidskriftsartikel (refereegranskat)abstract
- The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an indepth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.
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| 2. |
- Möller, Claes, 1950-, et al.
(författare)
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Usher syndrome : an otoneurologic study
- 1989
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Ingår i: The Laryngoscope. - : Wiley. - 0023-852X .- 1531-4995. ; 99:1, s. 73-79
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome is an autosomal recessive disorder characterized by severe hearing loss or deafness and retinitis pigmentosa. Eleven families with 25 affected members were studied. The test battery included genetic studies, clinical examination, audiological, ophthalmologic, and otoneurological tests, and magnetic resonance imaging. Sixteen affected persons had profound hearing loss or were considered anacusic, with absent bilateral vestibular responses. These patients had varying degrees of retinitis pigmentosa. These 16 patients were considered to have type I Usher syndrome. Nine persons were diagnosed as Usher type II with a moderate to profound hearing loss, normal vestibular function, and retinitis pigmentosa of varying degree. Magnetic resonance imaging was normal in all cases. Otoneurological tests indicated no central nervous system disturbances. The conclusion is that hearing loss and balance problems in Usher syndrome are due to inner ear damage with no evidence of central nervous system disturbances. Furthermore, the ataxia seen in Usher type I is due to a combination of retinitis pigmentosa and bilateral peripheral vestibular deficiency.
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| 3. |
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| 4. |
- Ödkvist, Lars M., et al.
(författare)
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Findings in olivopontocerebellar degeneration
- 1988
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Ingår i: Vertigo, nausea, tinnitus, and hypoacusia in metabolic disorders. - 9780444810243 ; , s. 327-331
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Konferensbidrag (refereegranskat)
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