Voice Alterations in Patients With Spinocerebellar Ataxia Type 7 (SCA7): Clinical-Genetic Correlations.

BACKGROUND/OBJECTIVES: Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a cytosine-adenine-guanine triplet located in the coding region of the ATXN7 gene, which is characterized by cerebellar ataxia, pigmentary macular degeneration, and dysarthria. Although dysarthria is a common feature in various SCA, its clinical characterization has been barely approached. PATIENTS/METHODS: In this study, we report, to our knowledge for the first time, a detailed voice analysis in a large series of patients with SCA7, using different vocal parameters, including jitter, shimmer, and fundamental frequency. Patients were molecularly diagnosed using fluorescent-based polymerase chain reaction and capillary electrophoresis, and clinically characterized using the Scale for the Assessment and Rating of Ataxia and the Inventory of Non-Ataxia Symptoms. RESULTS: We found altered jitter, shimmer, and fundamental frequency measurements in patients with SCA7 compared with control subjects (P < 0.05). However, voice impairment was found unrelated with both age at disease onset and size of the cytosine-adenine-guanine triplet tract. Remarkably, jitter and shimmer measurements of patients were found to correlate with their Inventory of Non-Ataxia Symptoms, but not with their Scale for the Assessment and Rating of Ataxia scores, implying that voice impairment is the result of extra-cerebellar manifestations of the disease. CONCLUSIONS: We propose that deficiency of the extra-cerebellar component of SCA7 might lead to sudden changes in laryngeal muscle tone, producing instability in sustained vowel phonation. Clinical characterization of voice will help to discriminate SCA7 from other SCA and to guide vocal therapy treatments.

Spectrum of immune-mediated inner ear disease and cochlear implant results.

OBJECTIVES/HYPOTHESIS: To characterize the progression of hearing loss in patients with immune-mediated inner ear disease (IMIED), and to identify disease- and patient-specific factors associated with cochlear implant (CI) performance. STUDY DESIGN: Retrospective cohort study. METHODS: Subjects consisted of CI patients suspected to have lost their hearing due to IMIED. The primary dependent variable for functional decline was time to deafness, whereas for CI benefit it was post-CI speech perception scores. Independent variables included presence or absence of systemic autoimmune disease, age at CI, and insertion depth of the cochlear electrode. RESULTS: A transient favorable response to immunosuppressive therapy was reported in 16 of 26 patients (66.67%). The time to deafness differed between an organ (ear)-specific immune-mediated group, a systemic immune-mediated group including Cogan syndrome and relapsing polychondritis (subgroup A), and a systemic immune-mediated group associated with other autoimmune diseases (subgroup B; P = .001). Disease group (-15.52; P = .04), insertion depth of the CI electrode (40.71; P = .01), and the age at CI (-0.48, P = .05) were associated with speech perception results. CONCLUSIONS: Triaging IMIED cases based on presence and type of systemic autoimmune disease may aid in selecting a management strategy. Knowledge about the predictors of CI outcome will help clinicians select appropriate patients for CIs. In the setting of significant and irreversible hearing deficit, the restoration of hearing using a cochlear prosthesis may be appropriate earlier rather than later.