Patients Over 60 Years of Age Have Poor Prognosis in Facial Nerve Decompression Surgery with Preserved Ossicular Chain.

OBJECTIVE: We report our retrospective study of the recovery rate of auditory ossicles preserved facial nerve decompression surgery via the transmastoid approach in cases of both an electroneurography score of < 10% and a Yanagihara score of ≤8 in Bell's palsy and Ramsay Hunt syndrome. MATERIALS AND METHODS: We retrospectively reviewed 47 patients who we were able to follow-up for more than 6 months following the onset of palsy. The recovery rate was defined by the Japan Society for Facial Nerve Research or the Yanagihara score. RESULTS: Twelve months after palsy onset, the recovery rate was 48.8% (20/41) for all patients, 65.2% (15/23) for patients with Bell's palsy, and 27.8% (5/18) for patients with Ramsay Hunt syndrome. Comparing the clinical efficacy of surgical treatment at 12 months after palsy onset, we observed a statistically significant effect of age. Comparing the Yanagihara scores of patients aged < 60 years with those of patients aged ≥60 years revealed that patients aged ≥60 years had significant poor prognosis, particularly in patients with Ramsay Hunt syndrome, which showed a very low recovery rate (14.3%). We also analyzed six other factors, but none showed statistical significance. CONCLUSION: The clinical efficacy of surgical treatment of Ramsay Hunt syndrome was inferior to that of Bell's palsy, which is consistent with previous reports. There was a statistically significant difference in the Yanagihara score between patients aged < 60 years and those aged ≥60 years. Particularly, patients with Ramsay Hunt syndrome aged ≥60 years have a very low recovery rate.

La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte» / Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia»

Introducción-objetivos: Describir la historia del descubrimiento de la SCA36 y revisar los conocimientos actuales sobre esta entidad que, por un efecto fundador, ha pasado a ser la SCA más prevalente en Galicia (España). Desarrollo: La SCA36 es una enfermedad heredodegenerativa autosómica dominante, de inicio tardío y lenta progresión, que cursa con ataxia cerebelosa, hipoacusia neurosensorial y discreta afectación de neuronas motoras (atrofia y fasciculaciones linguales y signos piramidales leves). Ha sido descrita inicialmente en Japón (ataxia del río Asida) y en Galicia (ataxia da Costa da Morte). Se produce por una mutación (expansión intrónica de hexanucleótido) en el gen NOP56, localizado en 20p13. En los estudios de resonancia magnética se observa inicialmente atrofia vermiana superior, que se extenderá al resto del cerebelo y finalmente a la porción bulboprotuberancial del tronco cerebral, sin lesiones de sustancia blanca. Las velocidades de conducción nerviosa periférica son normales y en los estudios de potenciales evocados somatosensoriales se detecta retraso de la conducción al estimular en miembros inferiores. En los pacientes con hipoacusia, suele encontrarse en la audiometría una caída > 40dB a partir de 2.400Hz; también se observa ausencia de ondas I y II en los estudios de potenciales evocados auditivos. Conclusiones: La ataxia da Costa da Morte-SCA36 es la SCA más prevalente en Galicia (España). Dada la alta tasa de emigración de nuestra comunidad autónoma, se espera que se diagnostiquen nuevos casos en diversas latitudes, sobre todo en América Latina. Ahora está disponible el diagnóstico genético para pacientes con clínica y portadores asintomáticos. Dado el alto número de pacientes en riesgo de sufrir la enfermedad, continuamos con las investigaciones para aclarar los mecanismos moleculares patogénicos y poder encontrar una terapéutica (AU)

Introduction-objective: To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia (Spain) owing to a founder effect. Development: SCA36 is an autosomal dominant hereditary ataxia with late onset and slow progression. It presents with cerebellar ataxia, sensorineural hearing loss, and discrete motor neuron impairment (tongue atrophy with denervation, discrete pyramidal signs). SCA36 was first described in Japan (Asida River ataxia) and in Galicia (Costa da Morte ataxia). The condition is caused by a genetic mutation (intronic hexanucleotide repeat expansion) in the NOP56 gene on the short arm of chromosome 20 (20p13). Magnetic resonance image study initially shows cerebellar vermian atrophy that subsequently extends to the rest of the cerebellum and finally to the pontomedullary region of the brainstem without producing white matter lesions. Peripheral nerve conduction velocities are normal, and sensorimotor evoked potential studies show delayed conduction of stimuli to lower limbs. In patients with hearing loss, audiometric studies show a drop of > 40dB in frequencies exceeding 2,500Hz. Auditory evoked potential studies may also show lack of waves I and II. Conclusions: Costa da Morte ataxia or SCA36 is the most prevalent SCA in the Spanish region of Galicia. Given the region's history of high rates of emigration, new cases may be diagnosed in numerous countries, especially in Latin America. Genetic studies are now available to patients and asymptomatic carriers. Since many people are at risk for this disease, we will continue our investigations aimed at elucidating the underlying pathogenic molecular mechanisms and discovering effective treatment (AU)