Long-term analysis of patients with benign multiple sclerosis: new insights about the disability course.

OBJECTIVE: To describe the course of disability in patients with benign multiple sclerosis-i.e., with an expanded disability status scale score < 3 10 years after disease onset-for up to 30 years after disease onset. We evaluated the proportion of patients remaining in the benign state on the long term and the factor associated with this favorable outcome and determined the pattern of disability course after the loss of the benign status. METHODS: Patients were selected from the ReLSEP, a French population-based registry. We studied the probability (Kaplan-Meier method) and predictors (multivariate Cox model) of remaining < 3 after year 10, and the course of disability after score 3 according to the duration of the benign phase in patients with ≥ 30 years of follow-up (graphs of the course of the mean expanded disability status scale scores in subgroups of patients). RESULTS: 2295/3440 patients had benign multiple sclerosis (66.7%). The probability of remaining benign at year 30 was 0.26 (95% CI 0.26-0.32). A young age at disease onset and a good recovery after the first relapse were associated with remaining benign. Graphs illustrate that those who lost their benign status between years 10 and 30 follow a two-stage course. Beyond score 3, disability accumulation is similar in all but lower disability scores at advanced age are associated with longer benign periods. CONCLUSION: The longer a patient remains in the benign state, the lower the final EDSS at advanced age.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

BACKGROUND: STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of cerebellar ataxia. OBJECTIVE: We aimed to improve the clinical, radiological, and molecular delineation of SCAR16 and SCA48. METHODS: Retrospective collection of patients with SCAR16 or SCA48 diagnosed in three French genetic centers (Montpellier, Strasbourg and Nancy). RESULTS: Here, we report four SCAR16 and nine SCA48 patients from two SCAR16 and five SCA48 unrelated French families. All presented with slowly progressive cerebellar ataxia. Additional findings included cognitive decline, dystonia, parkinsonism and swallowing difficulties. The age at onset was highly variable, ranging from 14 to 76 years. Brain MRI showed marked cerebellar atrophy in all patients. Phenotypic findings associated with STUB1 pathogenic variations cover a broad spectrum, ranging from isolated slowly progressive ataxia to severe encephalopathy, and include extrapyramidal features. We described five new pathogenic variations, two previously reported pathogenic variations, and two rare variants of unknown significance in association with STUB1-related disorders. We also report the first pathogenic variation associated with both dominant and recessive forms of inheritance (SCAR16 and SCA48). CONCLUSION: Even though differences are observed between the recessive and dominant forms, it appears that a continuum exists between these two entities. While adding new symptoms associated with STUB1 pathogenic variations, we insist on the difficulty of genetic counselling in STUB1-related pathologies. Finally, we underscore the usefulness of DAT-scan as an additional clue for diagnosis.

Perioperative Bioccipital Watershed Strokes in Bilateral Fetal Posterior Cerebral Arteries During Spinal Surgery.

BACKGROUND: Vision loss due to cerebral infarction during spinal surgery is less described. Intraoperative hypotension would be a leading cause. Patients with variation of the circle of Willis could be more prone to present stroke in this context, but reports are lacking to sustain the theory. Bilateral occipital watershed ischemic strokes have never been described before. We report the case of a patient with a fetal origin of both posterior cerebral arteries (PCAs), presenting this particular anatomic stroke following lumbar laminectomy surgery for spinal stenosis during which intraoperative hypotension was observed. We discuss how this common anomaly associated with intraoperative hypotension could have promoted this serious complication. CASE DESCRIPTION: A 55-year-old man woke up with cortical blindness after he had undergone lumbar surgery during which a marked decrease in blood pressure had occurred. Magnetic resonance imaging revealed bilateral symmetric infarctions of the occipital lobes in the distal territory of both PCAs and smaller anterior watershed ischemic strokes, suggesting a hemodynamic mechanism. Extended investigations, including conventional angiography, failed to find any cause of stroke but revealed bilateral fetal PCAs supplied by internal carotid arteries only. Two years later, the patient has not recovered and remains severely visually impaired. CONCLUSIONS: The standing hypothesis would be posterior low-flow infarctions resulting from intraoperative hypotension on a variation of the circle of Willis more prone to decrease in cerebral blood flow. Moreover, this case supports the hypothesis of vascular insufficiency due to intraoperative hypotension as cause of stroke during spinal surgery.