Francisco Manoel Branco Germiniani

Spinocerebellar ataxias (SCAs) are heterogeneous neurodegenerative disorders with variable phenotypes. Somatosensory evoked potentials (SSEPs) provide insights into the integrity of the dorsal-lemniscal pathway. This study aimed to evaluate SSEP findings in patients with SCA3 and SCA10 and compare their neurophysiological profiles. We conducted a cross-sectional study including 20 SCA3 patients and 20 SCA10 patients under follow-up at a tertiary ataxia clinic in Southern Brazil. Clinical assessment comprised demographic, genetic, and phenotypic characterization, including the Scale for the Assessment and Rating of Ataxia (SARA). SSEPs were recorded bilaterally after median and tibial nerve stimulation, assessing latencies and amplitudes of N9, N20, N21, and P40 potentials, as well as interpotential intervals. Examinations were classified as normal or abnormal, and abnormalities were categorized. Abnormal SSEPs were detected in 18 SCA3 patients (90%) and in 3 SCA10 patients (15%) ( p < 0.001). In SCA3, abnormalities predominantly involved central generators. In contrast, most SCA10 patients exhibited normal SSEPs, with only a few isolated cortical responses and interval abnormalities. No significant associations were found between SSEP abnormalities and demographic, clinical, imaging, or genetic variables in either group. SCA3 shows widespread somatosensory dysfunction, whereas SCA10 patients, particularly in Southern Brazil, show preserved SSEPs consistent with pure cerebellar ataxia. These findings highlight distinct neurophysiological signatures in SCAs, reinforcing their heterogeneity and supporting SSEPs as candidate markers for differential characterization, requiring validation.

We review the contributions of Georges Guinon, an eminent pupil of Professor Jean-Martin Charcot, to the clinical description of Gilles de La Tourette syndrome, including phenomenological definitions and the occurrence of psychiatric findings such as obsessive-compulsive behavior.

A 27-year-old man presented with subacute generalized dystonia, low ceruloplasmin levels, and increased copper urinary excretion which were consistent with the diagnosis of Wilson's disease (WD). Following initial treatment, the dystonia improved significantly, but hand involvement persisted ([Figure 1]). Dystonia affecting the hands may present in various forms. Complex patterns previously reported include starfish hand,[1] claw hand,[2] and task-specific dystonias, comprising musician's dystonia, writer's cramp, and hairdresser's dystonia,[3] among others.[4] Dystonia in young patients warrants prompt investigation to rule out reversible conditions including WD.[5] Accurate recognition of the muscles involved in dystonia is important for optimal treatment with botulinum toxin. Ayrton Roberto Massaro. José Luiz Pedroso. LEBMZ: investigation, conceptualization, data curation, methodology, and writing – editing and review; RCA, FMBG: conceptualization, investigation, supervision, validation, visualization, writing – original draft, and writing – review & editing; HAGT: conceptualization, investigation, supervision, validation, visualization, and writing – review & editing. Received: 02 May 2024 Accepted: 21 July 2024 Article published online: 02 October 2024 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

Personal and professional rivalries involving prominent neurologists mark the history of nineteenth-century French neurology. One of the great examples is the feud between Pierre Marie and Jules Dejerine. The dispute between the two, nevertheless, did not prevent Pierre Marie's son, André Marie, and Gustave Roussy – one of Dejerine's favorite pupils, from collaborating on significant research that led to the doctoral dissertation by Andre Marie regarding sensory disturbances associated with painful hemiagnosia found in thalamic lesions.

Background Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia. Although botulinum toxin type A (OBTA) injections are the standard treatment, evidence of their effectiveness and safety in this scenario is still lacking. Objective Our research aimed to evaluate the improvement and occurrence of side effects following injections of onabotulinum toxin type A (OBTA) in patients with Meige's syndrome. Methods Patients with Meige's syndrome undergoing botulinum toxin injections were enrolled in this study. We assessed dystonia intensity before and 14 days after OBTA injection using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to measure the response of symptoms in the eyes (blepharospasm) and mouth (oromandibular dystonia). Other variables, such as dosage, side effects, and demographic data, were also recorded. Results The study included 41 participants, with a mean age of 67.7 years and a female-to-male ratio of 3.5:1. The mean BFMDRS score before the injections was 8.89, and after 14 days, it was 2.88. The most reported side effect was ptosis, with a 7.3% incidence. OBTA significantly reduced dystonia severity (p < 0.0001). The clinical response for the blepharospasm component was superior to the oromandibular dystonia component. Conclusion Our results support that OBTA seems to be an effective and safe therapeutic option for treating Meige's syndrome. The effect of OBTA was more pronounced in the treatment of blepharospasm than in oromandibular dystonia.

Even though jazz is a musical style that excels in improvisation and virtuosity, it is not without its share of anecdotes, drama, and downright tragedy, and the biographies of jazz musicians and their demise are fraught with ominous and dire straits. Unsurprisingly, some would develop chronic and fatal diseases. The neurological diseases that afflicted the following six composers and musicians, all of whom are considered jazz legends, are briefly discussed: Charles Mingus, diagnosed with amyotrophic lateral sclerosis; Lester Young and Charlie Parker, both diagnosed with neurosyphilis; Thelonius Monk, who had possible frontotemporal dementia; George Gershwin, who died as a result of brain glioma; and Cole Porter, who developed phantom limb pain following an amputation. The association of lifestyles, with drug abuse, particularly alcohol and heroin, in addition to great sexual promiscuity factors contributed to the development of a series of diseases such as syphilis. In addition, we also described some fatalities such as neurodegenerative diseases and cerebral glioma.

André Brouillet’s (1857-1914) famous group tableau ‘A Clinical Lesson at La Salpêtrière’ (French: Une leçon clinique à la Salpêtrière) is possibly the most celebrated painting in the history of neurology. His depiction of one of Jean-Martin Charcot’s legendary “Tuesday Lessons” includes portraits of not only one of the master’s most famous patients, but also of his pupils, the heirs to the founder of modern neurology. However, the painter himself has long been neglected, and even his other paintings on medical subjects are little acknowledged. The authors aim to bring attention to Brouillet’s life and times, as well as the remainder of his notable works; and in giving a proper context to the famous painting, neurologists today may be able to appreciate better the early history of our field and its cultural impact.