Faculty Bibliography

Multiparametric flow cytometry (FC) of CSF allows one to easily estimate the percentage of lymphocyte subpopulations in CSF. We hypothesized that an increased ratio of B-lineage cells in CSF of MS patients, as assessed with FC, could be useful for diagnostics. We analyzed CSF of 137 patients (70 MS, 24 infectious/autoimmune neurologic disorders (INDs), and 43 non-infectious/autoimmune neurologic disorders (NINDs)), and showed that CSF plasmablasts of >0.1% had a sensitivity of 40% for MS and specificity of 92% when comparing MS and IND, while plasmablasts of >0.25% had sensitivity of 36%, and 100% specificity.

BACKGROUND:It is well documented that ambulatory disability in MS worsens over time, but there is a dearth of information on symptom evolution in other domains commonly affected by MS. METHODS:SymptoMScreen (SyMS) is a validated tool for assessing symptom severity in 12 domains commonly affected by MS. Patients who attended two specialized MS centers filled out SyMS at each visit. We included in the study patients with neurologist-diagnosed MS who completed two SyMS questionnaires separated at least 12 months. We used the first and final assessment and adjusted for time on study, baseline SyMS score, age, sex, race, MS type, disability strata, and site. Changes over time were also examined using Markov chain estimates of moving from one level of botheration to another for each domain over 1-year periods. RESULTS:A total of 1,014 MS patients met the inclusion criteria. Mean composite SyMS score was 1.4 (±1.16) at baseline and increased by 0.084 (±0.73) points during 21.0 (±5.5) months of followup (p<0.0001). The initial mean composite SyMS score correlated strongly with the final mean composite SyMS score (r=0.81). Individual domain SyMS scores at baseline were highest for fatigue: 2.2 (±1.7), and lowest for vision: 1.1 (±1.3) and dexterity: 1.1 (±1.4). Small but significant increases during followup were seen in dexterity, bladder, vision, and pain domains, while significant decreases were seen in anxiety and sensory domains. We observed a high degree of inter-individual variability in symptom severity with the more extreme scores tending to resolve over time. CONCLUSIONS:Symptom botheration increases modestly year-to-year, as would be expected in a slowly progressive disease that evolves over decades. Initial symptom burden strongly correlated with final symptom burden, but there was a high degree of individual variability in symptom severity.

BACKGROUND:Paroxysmal symptoms (PS), defined as short-lasting, recurrent, and stereotyped neurological symptoms, are frequently reported by patients with Neuromyelitis Optica Spectrum Disorder (NMOSD). Their prevalence and spectrum of presentations in NMOSD have not been fully characterized. METHODS:Patients with NMOSD, who were members of a closed international Facebook Group, were recruited to complete an anonymous survey on REDCap. Participants were queried regarding demographic and NMOSD-related characteristics and PS history. RESULTS:The sample consisted of 219 responders with self-reported NMOSD, of whom 134 (63.8%) reported testing positive for AQP4 Antibody. 156 responders (71.9%) reported ≥1 type of PS during the disease course. The most common PS were intermittent tingling/numbness sensation (N=106, 67.9%), followed by involuntary muscle contractions/abnormal posture (N=95, 60.9%), hot/cold/burning sensations (N=87, 55.8%), and shock-like sensations along the spine or limbs (N=77, 49.4%). 150 responders (96% of those with PS) reported that PS were painful; in 82 responders (54.6%), the pain intensity reached ≥ 8/10 and in 40 responders (26.0%) - 10/10 level. PS were most commonly aggravated by fatigue (105 responders, 70.0%), physical activity (N=86, 57.3%), and neck flexion (N=39 responders, 26.0%). 82 patients (52.5% of those with PS) reported having been prescribed one or more medications for PS. Less than 50% reported them to be 'very helpful.' CONCLUSIONS:This survey highlights that PS occurs commonly in NMOSD patients. The symptomatology of PS is diverse. PS are often painful and not adequately treated. Our study represents a novel method to learn more about a rare disease from the patient's perspective. Given the fact that the study was conducted using an anonymous questionnaire and the diagnosis of NMOSD was self-reported by the survey participants, its' results should be regarded as a first step towards the understanding of PS in NMOSD, which should be further validated in a larger, controlled study.