Background Disease severity in spinocerebellar ataxia type 3 (SCA3) is commonly defined by the Scale for the Assessment and Rating of Ataxia (SARA) sum score, but little is known about the contributions and progression patterns of individual items. Objectives To investigate the temporal dynamics of SARA item scores in SCA3 patients and evaluate if clinical and demographic factors are differentially associated with evolution of axial and appendicular ataxia. Methods In a prospective, multinational cohort study involving 11 European and 2 US sites, SARA scores were determined longitudinally in 223 SCA3 patients with a follow‐up assessment after 1 year. Results An increase in SARA score from 10 to 20 points was mainly driven by axial and speech items, with a markedly smaller contribution of appendicular items. Finger chase and nose‐finger test scores not only showed the lowest variability at baseline, but also the least deterioration at follow‐up. Compared with the full set of SARA items, omission of both tests would result in lower sample size requirements for therapeutic trials. Sex was associated with change in SARA sum score and appendicular, but not axial, subscore, with a significantly faster progression in men. Despite considerable interindividual variability, the average annual progression rate of SARA score was approximately three times higher in subjects with a disease duration over 10 years than in those within 10 years from onset. Conclusion Our findings provide evidence for a difference in temporal dynamics between axial and appendicular ataxia in SCA3 patients, which will help inform the design of clinical trials and development of new (etiology‐specific) outcome measures. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Background There is a lower reported incidence of intracranial hemorrhage with non-vitamin K antagonist oral anticoagulants compared with vitamin K antagonist. However, the functional outcome and mortality of intracranial hemorrhage patients were not assessed. Aims To compare the outcome of vitamin K antagonists- and non-vitamin K antagonist oral anticoagulants-related intracranial hemorrhage. Methods We included consecutive patients with acute non-traumatic intracranial hemorrhage on oral anticoagulation therapy admitted between January 2013 and June 2015 at four university hospitals. Clinical and demographic data were obtained from individual medical records. Intracranial hemorrhage was classified as intracerebral, extra-axial, or multifocal using brain computed tomography. Three-month functional outcome was assessed using the modified Rankin Scale. Results Among 246 patients included, 24 (9.8%) were anticoagulated with a non-vitamin K antagonist oral anticoagulants and 222 (90.2%) with a vitamin K antagonists. Non-vitamin K antagonist oral anticoagulants patients were older (81.5 vs. 76 years, p = 0.048) and had intracerebral hemorrhage more often (83.3% vs. 63.1%, p = 0.048). We detected a non-significant trend for larger intracerebral hemorrhage volumes in vitamin K antagonists patients ( p = 0.368). Survival analysis adjusted for age, CHADSVASc, HAS-BLED, and anticoagulation reversal revealed that non-vitamin K antagonist oral anticoagulants did not influence three-month mortality (hazard ratio (HR) = 0.83, 95% confidence interval (CI) = 0.39-1.80, p = 0.638). Multivariable ordinal regression for three-month functional outcome did not show a significant shift of modified Rankin Scale scores in non-vitamin K antagonist oral anticoagulants patients (odds ratio (OR) 1.26, 95%CI 0.55-2.87, p = 0.585). Conclusions We detected no significant differences in the three-month outcome between non-vitamin K antagonist oral anticoagulants- and vitamin K antagonists-associated intracranial hemorrhage, despite unavailability of non-vitamin K antagonist oral anticoagulants-specific reversal agents.

A 28-year-old man had spasmodic dysphonia due to focal oromandibular-laryngeal dystonia from the age of 6, evolving rostrocaudally into a particular gait dystonia resembling Charlie Chaplin's Charlot gait (video 1). Recently he developed a progressive worsening of bulbar symptoms and a severe dysarthrophonia. No pyramidal or parkinsonism signs were observed. No intellectual dysfunction was noted. Head MRI was normal. Secondary causes of dystonia were excluded. Dystonia next-generation sequencing panel (58 genes) was negative. The sequencing of KMT2B identified a heterozygous de novo variant c5198-4_5206del(p?)-intron24/exon25, classified as pathogenic. This case expands DYT-KMT2B's clinical phenotype due to early oromandibular-laryngeal involvement and atypical gait dystonia. 1,2 Study fundingNo targeted funding reported.

Outside the context of overdose and serotonin syndrome, seizures and myoclonic movements attributed to selective serotonin reuptake inhibitors (SSRIs) are rare and poorly documented. We present a 77-year-old man, with no history of epilepsy, presenting in the emergency department with whole body jerks since that morning. Two days earlier, due to a prescription mistake, he was started on paroxetine 20 mg instead of his usual fluoxetine 20 mg. The patient's electroencephalogram (EEG), performed in the emergency department, revealed a bilateral synchronous parieto-occipital fast spike activity pattern, which correlated consistently with negative myoclonus. Two days after stopping paroxetine, the patient presented no seizures and no abnormalities in the EEG. We present an EEG documented case of drug-induced seizures, with a bilateral parieto-occipital pattern, secondary to paroxetine intake. A hyperexcitability of the primary somatosensory cortex inhibiting primary motor cortex output could explain the electroclinical correlation.

A genetic etiology of isolated dystonia is suspected if there is an early-onset dystonia or a positive family history. However, the current overall yield of a genetic etiological diagnosis remains below 30%. 1 We present a case of a 13-year-old Caucasian male, the only child from a non-consanguineous couple, without family history of neurological diseases, with no previous medical history, and normal psychomotor development.At the age of 8, he started developing involuntary twisting movements that resulted in abnormal postures, first affecting his right lower-limb, then progressing to cervical region and right upper-limb, mildly impairing his daily activities and manifesting mostly while exercising. At 9 years old, the dystonic movements progressed to left hemi-body and axial region, and he developed a slight slurred speech. There were no cognitive or behavioral symptoms, and he maintained school performance with adjustments.At the age of 11, his examination revealed a generalized dystonia (Fig. 1, Video 1) resulting in gait impairment, frequent falls, and important disruption of daily activities. There were no ophthalmological abnormalities, other cranial nerve signs, pyramidal signs, parkinsonism, cerebellar features, or myoclonus.Initial therapeutic management included levodopa/carbidopa (up to 300 mg per day), clonazepam, baclofen, and tetrabenazine, all without sustained response. Complementary examination included a normal brain and cervical magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis. Laboratory work-up