Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed.

Late onset neuromyelitis optica spectrum disorders (LONMOSD) from a nationwide Portuguese study: Anti-AQP4 positive, anti-MOG positive and seronegative subgroups.

INTRODUCTION: Several neuroimmunological disorders have distinct phenotypes according to the age of onset, as in multiple sclerosis or myasthenia gravis. It is also described that late onset NMOSD (LONMOSD) has a different phenotype. OBJECTIVE: To describe the clinical/demographic characteristics of the LONMOSD and distinguish them from those with early onset (EONMOSD). METHODS: From a nationwide Portuguese NMOSD study we analyzed the clinical/demographic characteristics of the LONMOSD. RESULTS: From the 180 Portuguese patients 45 had disease onset after 50 years old, 80% were female. 23 had anti-AQP4 antibodies (51.1%), 13 anti-MOG antibodies (28.9%) and 9 were double seronegative (20.0%). The most common presenting phenotypes in LONMOSD were transverse myelitis (53.3%) and optic neuritis (26.7%), without difference from EONMOSD (p = 0.074). The mean EDSS for LONMOSD was 6.0 (SD=2.8), after a mean follow-up time of 4.58 (SD=4.47) years, which was significantly greater than the mean EDSS of EONMOSD (3.25, SD=1.80)(p = 0.022). Anti-AQP4 antibodies positive LONMOSD patients had increased disability compared to anti-MOG antibodies positive LONMOSD (p = 0.022). The survival analysis showed a reduced time to use a cane for LONMOSD, irrespective of serostatus (p<0.001). CONCLUSIONS: LONMOSD has increased disability and faster progression, despite no differences in the presenting clinical phenotype were seen in our cohort.

Percutaneous transluminal angioplasty and stenting in acute stroke caused by basilar artery steno-occlusive disease: The experience of a single stroke centre.

BACKGROUND: Percutaneous transluminal angioplasty and stenting in acute stroke due to severe basilar artery stenosis or basilar artery occlusion remain a matter of debate. The higher risk of stroke recurrence in patients with vertebrobasilar stenosis compared to anterior circulation atherosclerotic disease creates high expectations concerning endovascular approaches. This study aims to review our experience with percutaneous transluminal angioplasty and stenting in acute stroke caused by basilar artery steno-occlusive disease. METHODS: Our prospective database from June 2014 until December 2020 was screened and patients with acutely symptomatic severe (>80%) basilar artery stenosis or acute basilar artery occlusion who underwent percutaneous transluminal angioplasty and stenting were analysed. RESULTS: Twenty-five patients included: 72% men (mean age 68.6 years), all with prior modified Rankin Scale <2. Twelve presented with acute basilar artery occlusion and were submitted to mechanical thrombectomy before percutaneous transluminal angioplasty and stenting, while the remaining had severe basilar artery stenosis. Successful stent placement was achieved in 22 (88%). Procedure-related complications included new small ischemic lesions (16%), basilar artery dissection (8%), vertebral artery dissection (12%) and death (12%). At 3 months post-percutaneous transluminal angioplasty and stenting, 10 out of 23 patients (43.5%) were independent (mRS ≤ 2) and six died. Fourteen patients underwent transcranial Doppler ultrasound 3 months post-percutaneous transluminal angioplasty and stenting: 12 showed residual stenosis, one significant stent restenosis and one presented stent occlusion. CONCLUSIONS: Percutaneous transluminal angioplasty and stenting showed to be a technically feasible and reasonably safe procedure in selected patients. However, good clinical outcomes may be difficult to achieve as only 43.5% of the patients remained independent at 3 months. Randomized studies are needed to confirm the efficacy and safety outcomes of percutaneous transluminal angioplasty and stenting in acute stroke caused by basilar artery steno-occlusive disease.

Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study.

INTRODUCTION: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. OBJECTIVE: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. METHODS: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. RESULTS: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. CONCLUSION: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.

Neurologists' Diagnostic Accuracy and Interspecialties' Diagnostic Concordance of Acute Vertigo: Observational Study at the Emergency Department in a Tertiary Center.

BACKGROUND: Acute vertigo (AV) is often a challenging condition. Because of its multiple causes, patients are frequently observed by neurologists and physicians from other areas of specialites, particularly Ear, Nose, and Throat (ENT). We aimed to assess the diagnostic accuracy of AV in patients observed by Neurology and other medical specialties. MATERIALS AND METHODS: Retrospective cross-sectional study with the selection of all patients with AV observed by Neurology at the Emergency Department (ED) of a tertiary center in 2019, regarding demographic data, imaging studies, diagnosis by Neurology and ENT at the ED, and diagnosis after ED discharge by different medical specialties. RESULTS: In all, 54 patients were selected, 28 (52%) of them were women. The mean age was 59.96±14.88 years; 48% had a history of AV and 89% underwent imaging studies (computed tomography scan and/or magnetic resonance imaging scan). The most frequent diagnosis established by Neurology was benign paroxysmal positional vertigo, followed by vestibular neuronitis; 28 patients were also observed by ENT with an overall concordance rate of diagnosis of 39%. After ED discharge, most patients were observed at the Balance Disorders Outpatient Clinic. Diagnosis by Neurology at the ED was not significantly different from observation by other medical specialties after ED discharge regarding the distinction between peripheral and central causes of AV (κ=0.840, 95% confidence interval: 0.740 to 0.941, P<0.005). CONCLUSIONS: Neurologists can effectively differentiate central and peripheral causes of AV at the ED. Patients with AV should be primarily evaluated by Neurology at the ED, avoiding redundant observations and allowing faster patient management.