Why am I overwhelmed by bright lights? The behavioural mechanisms of post-stroke visual hypersensitivity.

After stroke, patients can experience visual hypersensitivity, an increase in their sensitivity for visual stimuli as compared to their state prior to the stroke. Candidate behavioural mechanisms for these subjective symptoms are atypical bottom-up sensory processing and impaired selective attention, but empirical evidence is currently lacking. In the current study, we aimed to investigate the relationship between post-stroke visual hypersensitivity and sensory thresholds, sensory processing speed, and selective attention using computational modelling of behavioural data. During a whole/partial report task, participants (51 stroke patients, 76 orthopedic patients, and 77 neurotypical adults) had to correctly identify a single target letter that was presented alone (for 17-100 ms) or along a distractor (for 83ms). Performance on this task was used to estimate the sensory threshold, sensory processing speed, and selective attention abilities of each participant. In the stroke population, both on a group and individual level, there was evidence for impaired selective attention and -to a lesser extent- lower sensory thresholds in patients with post-stroke visual hypersensitivity as compared to neurotypical adults, orthopedic patients, or stroke patients without post-stroke sensory hypersensitivity. These results provide a significant advancement in our comprehension of post-stroke visual hypersensitivity and can serve as a catalyst for further investigations into the underlying mechanisms of sensory hypersensitivity after other types of acquired brain injury as well as post-injury hypersensitivity for other sensory modalities.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. Here, we report a novel POLG missense mutation (R627W) in a sporadic patient and we provide genetic support that all these POLG mutations are actually causal and recessive. The novel patient presented with sensory ataxic neuropathy and has the clinical triad of sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.