Usefulness of the H-Reflex for Intraoperative Monitoring of Thoracoabdominal Aneurysms.

Purpose: Intraoperative neurophysiologic monitoring in thoracoabdominal aneurysms (TAAA) is essential to avoid intraoperative spinal cord injury). Motor and somatosensory evoked potentials may be considered intraoperative tools for detecting spinal cord injury. H-reflex is a well-known neurophysiologic technique to evaluate L5-S1 root.

New spinocerebellar ataxia subtype caused by mutation triggering mitochondrial dysregulation (SCA49).

Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and underlying genetic defects identified. In this study, we describe a new spinocerebellar ataxia subtype in nine members of a Spanish five-generation family from Menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination.

Clinical and genetical study of a familial form of REM sleep behavior disorder.

Objective: We report a kindred with a genetic form of REM behaviour disorder (RBD) with autosomal dominant transmission.

Patients And Methods: Clinical, polysomnography study, genetic study and brain MRI were performed to evaluate the index patients. The genetic study included exome sequencing of the index cases that detected 60,869 variants in the individuals examined.