Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Friedreich ataxia (FA) is a hereditary neurodegenerative disease with autosomical recessive inheritance. The purpose of this paper is to present two cases of FA with auditory neuropathy, demonstrated by Otoacoustic emissions (OAE) and brainstem auditory evoked potentials (BAEP). The patients were two adolescent girls. Both patients underwent behavioral pure-tone audiometry, BAEP, OAE, motor nerve conduction measurement, and magnetic resonance image studies. Both girls showed at least five of nine clinical criteria for FA. They also showed abnormal BAEP and normal OAE indicating auditory neuropathy. One patient showed normal thresholds on behavioral pure-tone audiometry, whereas the other patient showed a mild sensorineural hearing loss. In one case there was absence of peripheral caloric vestibular response, and electronystagmographic abnormalities compatible with cerebellar dysfunction. Cochlear function as assessed by OAE had not been reported previously in cases of FA. We conclude that auditory neuropathy should be considered in patients diagnosed as FA. Furthermore, BAEP and OAE should be included in the diagnostic routine in these patients.
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PMID:Auditory neuropathy in Friedreich ataxia. A report of two cases. 1274 58

To establish outcomes following cochlear implantation (CI) in patients with postsynaptic auditory neuropathy (AN). Systematic review and narrative synthesis. Databases searched: MEDLINE, PubMed, EMBASE, Web of Science, Cochrane Collection and ClinicalTrials.gov. No limits placed on language or year of publication. Review conducted in accordance with the PRISMA statement. Searches identified 98 studies in total, of which 14 met the inclusion criteria reporting outcomes in 25 patients with at least 28 CIs. Of these, 4 studies focused on Charcot-Marie-Tooth disease (CMT), 3 on Brown-Vialetto-Van-Laere syndrome (BVVL), 2 on Friedreich Ataxia (FRDA), 2 on Syndromic dominant optic atrophy (DOA+), 2 on Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS) syndrome, and 1 on Deafness-dystonia-optic neuronopathy (DDON) syndrome. All studies were Oxford Centre for Evidence Based Medicine (OCEBM) grade IV. Overall trend was towards good post-CI outcomes with 22 of the total 25 patients displaying modest to significant benefit. Hearing outcomes following CI in postsynaptic ANs are variable but generally good with patients showing improvements in hearing thresholds and speech perception. In the future, development of a clearer stratification system into pre, post, and central AN would have clinical and academic benefits. Further research is required to understand AN pathophysiology and develop better diagnostic tools for more accurate identification of lesion sites. Multicenter longitudinal studies with standardized comprehensive outcome measures including health-related quality of life data will be key in establishing a better understanding of short and long-term post-CI outcomes.
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PMID:Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis. 3313 25