Hearing loss in adult Refsum's disease

Clinical Otolaryngology and Allied Sciences

Volumn 28, Issue 3, 2003, Pages 227-230

  Bamiou, Doris Eva ^a   Spraggs, P R D ^a   Gibberd, F B ^a   Sidey, M C ^a   Luxon, L M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Auditory; Hearing loss; Neuropathy; Refsum's disease

Indexed keywords

ADULT; AGED; ARTICLE; AUDIOLOGY; AUDIOMETRY; CLINICAL ARTICLE; COCHLEAR NERVE; CONTROLLED STUDY; FEMALE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; MALE; MEDICAL ASSESSMENT; MORBIDITY; PRIORITY JOURNAL; REFSUM DISEASE;

ACOUSTIC IMPEDANCE TESTS; ADULT; AGED; AUDIOMETRY, PURE-TONE; DIET THERAPY; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; EYE MOVEMENTS; GAIT; HEARING LOSS, SENSORINEURAL; HUMANS; MIDDLE AGED; OTOSCOPY; PHYTANIC ACID; REFLEX, ACOUSTIC; REFSUM DISEASE; RETROSPECTIVE STUDIES;

EID: 0038547078     PISSN: 03077772     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2273.2003.00694.x     Document Type: Article

References (22)

1. WIERZBICKI A.S., LLOYD M.D., SCHOFIELD C.J. et al. (2002) Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J. Neurochem. 80, 727-735
2. BROWN P.J., MEI G., GIBBERD F.B. et al. (1993) Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease. J. Hum. Nutr. Diet 6, 295-305
3. REFSUM S. (1981) Heredopathia atactica polyneuritiformis phytanic-acid storage disease, Refsum's disease: a biochemically well-defined disease with a specific dietary treatment. Arch. Neurol. 38, 605-606
4. JANSEN G.A., OFMAN R., FERDINANDUSSE S. et al. (1997) Refsum's disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet. 17, 190-193
5. LEE Z.H., KIM H., AHN K.Y. et al. (2000) Identification of a brain specific protein that associates with a Refsum's disease gene product, phytanoyl-CoA alpha-hydroxylase. Brain Res. Mol. Brain Res. 75, 237-247
6. WIERZBICKI A.S., MITCHELL J., LAMBERT-HAMMILL M. et al. (2000) Identification of genetic heterogeneity in Refsum's disease. Eur. J. Hum. Genet. 8, 649-651
7. BERGSMARK J. & DJUPESLAND G. (1968) Heredopathia atactica polyneuritiformis (Refsum's diseases). An audiological examination of two patients. Eur. Neurol. 1, 122-130
8. DJUPESLAND G., FLOTTORP G. & REFSUM S. (1983) Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment. Neurology 33, 237-240
9. FELDMANN H. (1981) Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist. Laryngol. Rhinol. Otol. 60, 235-240
10. OYSU C., ASLAN I., BASARAN B. et al. (2001) The site of the hearing loss in Refsum's disease. Int. J. Pediatr. Otorhinolaryngol. 61, 129-134
11. BRITISH SOCIETY OF AUDIOLOGY (1981) Recommended procedure for pure tone audiometry using a manually operated instrument. Br. J. Audiol. 15, 213-216
12. COHEN M. & PRASHER D. (1988) ABR and ART in neurootological diagnosis. Scand. Audiol. 17, 153-162
13. SCHWARTZ D.M., MORRIS M.D. & JACOBSON J.T. (1994) The normal Auditory Brainstem Response and its variants. In Principles and Applications in Auditory Evoked Potentials, Chap. 6. JACOBSON J.T. (ed.). Allyn and Bacon, London
14. MÖLLER A.R. (1994) Neural generators of auditory evoked potentials. Semin. Hear. 19, 11-27
15. MUSIEK F.E., MCCORMICK C.A. & HURLEY R.M. (1996) Hit and false alarm rates of selected ABR indices in differentiating cochlear disorders from acoustic tumours. Am. J. Audiol. 5, 90-96
16. SCHUKNECHT H.F. (1993) Pathology of the Ear, 2nd edn. Lea & Febiger, London
17. NADOL J.B. (2001) Primary Cochlear Degeneration. In Auditory Neuropathy. SININGER Y. & STARR A. (eds). Singular, San Diego
18. SEKIYA T., HATAYAMA T., SHIMAMURA N. et al. (2000) An in vivo quantifiable model of cochlear neuronal degeneration induced by central process injury. Exp. Neurol. 161, 490-502
19. STARR A., PICTON T.W. SININGER Y. et al. (1996) Auditory neuropathy. Brain 119, 741-753
20. ZENG F.G., OBA S., GARDE S. et al. (1999) Temporal and speech processing deficits in auditory neuropathy. Neuroreport 10, 3429-3435
21. RANGE G., BEER D.E., CONE-WESSON B. et al. (1999) Clinical findings for a group of infants and young children with auditory neuropathy. Ear Hear 20, 238-252
22. HOOD L.J. (1998) Auditory neuropathy: what is it and what can we do about it. Hear. J. 51, 10-18