Targeted deep brain stimulation of the motor thalamus improves speech and swallowing motor functions after cerebral lesions.

Speech and swallowing are complex motor acts that depend upon the integrity of input neural signals from motor cortical areas to control muscles of the head and neck. Lesions damaging these neural pathways result in weakness of key muscles causing dysarthria and dysphagia, leading to profound social isolation and risk of aspiration and suffocation. Here we show that Deep Brain Stimulation (DBS) of the motor thalamus improved speech and swallowing functions in two participants with dysarthria and dysphagia. First, we proved that DBS increased excitation of the face motor cortex, augmenting motor evoked potentials, and range and speed of motion of orofacial articulators in n = 10 volunteers with intact neural pathways. Then, we demonstrated that this potentiation led to immediate improvement in swallowing functions in a patient with moderate dysphagia and profound dysarthria as a consequence of a traumatic brain lesion. In this subject and in another with mild dysarthria, we showed that DBS immediately ameliorated impairments of respiratory, phonatory, resonatory, and articulatory control thus resulting in a clinically significant improvement in speech intelligibility. Our data provide first-in-human evidence that DBS can be used to treat dysphagia and dysarthria in people with cerebral lesions.

Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman.

Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and other features (short stature, headaches, seizures, and sensorineural hearing loss) constitute characteristics of MELAS syndrome. MELAS is a rare condition due to mutations in maternally inherited mitochondrial DNA with levels of heteroplasmy possibly related to late adulthood presentation. A previously reported MELAS case coexisted with presumed Antiphospholipid Antibody Syndrome (APLAS), but the connection between MELAS and a potential APLAS is unclear. A 29-year-old woman presented with mild right-sided sensorimotor symptoms and mixed aphasia in November 2021. She presented again in May 2022 for unrelenting headaches and was found to have a new right hemisphere syndrome with mild left-sided sensorimotor symptoms, hemineglect, and anosognosia. Characteristic lab and imaging studies were obtained. During the first presentation (October 2021), the discovery of anticardiolipin IgM antibodies (aCL) (and their replication 3 months later) led to a diagnosis of APLAS, and Warfarin was initiated. During the second admission (May 2022), a new stroke-like lesion on the right hemisphere with characteristic features not suggestive of ischemia was detected, which led to a diagnosis of MELAS (m3243A > G mutation). Although MELAS and APLAS could co-exist, alternatively, it is possible that antiphospholipid antibodies might be generated when the strongly anionic Cardiolipin-Hydroperoxide from the inner mitochondrial membrane is exposed to immune component cells upon cell lysis. Thus, the presence of aCL in patients with stroke-like lesions might masquerade as an APLAS, but should probably be questioned if only aCL are repeatedly found and imaging findings are not characteristic for ischemic lesions.