The Huntington's Disease Gene Discovery.

The gene for Huntington's disease (HD) was discovered in 1993, after an international collaborative initiative that led researchers to remote regions of South America. It was the most remarkable milestone, since George Huntington's initial description. Through the phenomenological discussions led by Jean-Martin Charcot and Willian Osler, and finally Americo Negrette's reports, which served as the inspiration for the Venezuela Project led by Nancy Wexler, the journey toward discovering the Huntington's disease (HD) gene was marked by substantial efforts. This monumental achievement involved the analysis of more than 18,000 blood samples and gathered dozens of researchers in an integrated effort, enabling the mapping of the gene on chromosome 4 in 1983 and leading, a decade later, to the precise localization and identification of the HTT gene. The discovery of the HD mutation represented a pivotal moment in the field of genetics and neurology, significantly enhancing our understanding of the disease and creating opportunities for future treatments. The progress made and the knowledge gained during this journey catalyzed the development of many innovative molecular techniques that have advanced research in other medical conditions. In this article, the authors celebrate three decades of this memorable event, revisiting the historical aspects, providing insights into the techniques developed, and delving into the paths that ultimately led to the discovery of the HD gene. © 2024 International Parkinson and Movement Disorder Society.

Jean-Martin Charcot: the polymath / Jean-Martin Charcot: o polímata

Abstract Jean-Martin Charcot, widely regarded as a leading founder of modern neurology, made substantial contributions to the understanding and characterization of numerous medical conditions. His initial focus was on internal medicine, later expanding to include neuropathology, general neurology, and eventually emerging fields such as neuropsychology and neuropsychiatry. Furthermore, Charcot's intellectual pursuits extended beyond medicine, encompassing research in art history, medical iconography, sociology, religious studies, and the arts, solidifying his status as a polymath.

Resumo Jean-Martin Charcot, amplamente considerado como um proeminente fundador da neurologia moderna, fez contribuições substanciais para a compreensão e a caracterização de várias condições médicas. Seu foco inicial era a medicina interna, expandindo-se posteriormente para incluir a neuropatologia, a neurologia geral e, por fim, campos emergentes como a neuropsicologia e a neuropsiquiatria. Além disso, as buscas intelectuais de Charcot foram além da medicina, abrangendo pesquisas em história da arte, iconografia médica, sociologia, estudos religiosos e artes, solidificando seu status de polímata.

Jean-Martin Charcot: the polymath.

Jean-Martin Charcot, widely regarded as a leading founder of modern neurology, made substantial contributions to the understanding and characterization of numerous medical conditions. His initial focus was on internal medicine, later expanding to include neuropathology, general neurology, and eventually emerging fields such as neuropsychology and neuropsychiatry. Furthermore, Charcot's intellectual pursuits extended beyond medicine, encompassing research in art history, medical iconography, sociology, religious studies, and the arts, solidifying his status as a polymath.

Jean-Martin Charcot, amplamente considerado como um proeminente fundador da neurologia moderna, fez contribuições substanciais para a compreensão e a caracterização de várias condições médicas. Seu foco inicial era a medicina interna, expandindo-se posteriormente para incluir a neuropatologia, a neurologia geral e, por fim, campos emergentes como a neuropsicologia e a neuropsiquiatria. Além disso, as buscas intelectuais de Charcot foram além da medicina, abrangendo pesquisas em história da arte, iconografia médica, sociologia, estudos religiosos e artes, solidificando seu status de polímata.

The expulsion of Augusta Dejerine-Klumpke from the Salpêtrière Hospital: Pierre Marie's revenge.

Augusta Dejerine-Klumpke was ahead of her time, with extensive contributions to the field of neuroanatomy and neurology, achieving international recognition. Despite her great contribution to world neurology, she was expelled from the Salpêtrière hospital in 1917, due to the rivalry and mutual hatred between Pierre Marie and his rival Jules Déjerine, her husband and collaborator.

Augusta Dejerine-Klumpke era uma pessoa à frente de seu tempo, com extensas contribuições para o campo da neuroanatomia e neurologia, alcançando reconhecimento internacional. Apesar de sua grande contribuição para a neurologia mundial, ela foi expulsa do hospital Salpêtrière em 1917, devido à grande rivalidade e ódio mútuo entre Pierre Marie e seu rival Jules Dejerine.

Thomas Willis' legacy on the 400th anniversary of his birth.

To celebrate the 400th anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle-located at the base of the brain-, which bears his name. He also described the striatum and cranial nerves. Furthermore, as a clinical neurologist, Willis participated in the description of various diseases, including myasthenia gravis and restless legs syndrome.

Na comemoração dos 400 anos de nascimento de Thomas Willis, são apresentadas as suas principais contribuições para o desenvolvimento das neurociências, em particular a neurologia. Willis cunhou o termo neurologia, contribuiu significativamente na área de neuroanatomia, com a descrição do círculo arterial localizado na base do cérebro, que tem o seu nome, além da descrição do corpo estriado, e de nervos cranianos. Da mesma forma, como neurologista clínico, Willis participou da descrição de várias doenças como a miastenia gravis e da síndrome das pernas inquietas, entre outras doenças.

The expulsion of Augusta Dejerine-Klumpke from the Salpêtrière Hospital: Pierre Marie's revenge / A expulsão de Augusta Dejerine-Klumpke do hospital Salpêtrière: a vingança de Pierre Marie

Abstract Augusta Dejerine-Klumpke was ahead of her time, with extensive contributions to the field of neuroanatomy and neurology, achieving international recognition. Despite her great contribution to world neurology, she was expelled from the Salpêtrière hospital in 1917, due to the rivalry and mutual hatred between Pierre Marie and his rival Jules Déjerine, her husband and collaborator.

Resumo Augusta Dejerine-Klumpke era uma pessoa à frente de seu tempo, com extensas contribuições para o campo da neuroanatomia e neurologia, alcançando reconhecimento internacional. Apesar de sua grande contribuição para a neurologia mundial, ela foi expulsa do hospital Salpêtrière em 1917, devido à grande rivalidade e ódio mútuo entre Pierre Marie e seu rival Jules Dejerine.

Thomas Willis' legacy on the 400th anniversary of his birth / O legado de Thomas Willis no 400° aniversário de seu nascimento

Abstract To celebrate the 400th anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle—located at the base of the brain—, which bears his name. He also described the striatum and cranial nerves. Furthermore, as a clinical neurologist, Willis participated in the description of various diseases, including myasthenia gravis and restless legs syndrome.

Resumo Na comemoração dos 400 anos de nascimento de Thomas Willis, são apresentadas as suas principais contribuições para o desenvolvimento das neurociências, em particular a neurologia. Willis cunhou o termo neurologia, contribuiu significativamente na área de neuroanatomia, com a descrição do círculo arterial localizado na base do cérebro, que tem o seu nome, além da descrição do corpo estriado, e de nervos cranianos. Da mesma forma, como neurologista clínico, Willis participou da descrição de várias doenças como a miastenia gravis e da síndrome das pernas inquietas, entre outras doenças.

The importance of the Brazilian Society of Neurological Investigation (SBIN) / A importância da Sociedade Brasileira de Investigação Neurológica (SBIN)

The Brazilian Society of Neurological Research (SBIN) was founded on December 19, 2000, by a group of neurol-ogists headed by Professor Lineu César Werneck, MD, Ph.D., to promote scientific development and cultural diver-sity in neurology and neurosciences. The criteria for members' admission have always been strict, and the group reached 80% of physicians with a Ph.D. degree. However, the conditions to become a member were modified to attract more researchers, especially the younger ones, and neuroscientists from other areas of health and biology. The scientific events were the primary goal of SBIN. Eighteen editions were performed. The board and members of the SBIN recognized that the Brazilian Academy of Neurology, and the other societies that encouraged the neuro-sciences, were working to continue the exponential increase of scientific production in the neurosciences in Brazil, realizing that their purposes were fulfilled. The society was dissolved in December 2020 (AU)

A Sociedade Brasileira de Investigação Neurológica (SBIN) foi fundada em 19 de dezembro de 2000 por um grupo de neurologistas capitaneados pelo Prof. Dr. Lineu César Werneck, com a finalidade de promover o desenvolvimento científico e cultural na neurologia e nas neurociências. Os critérios de admissão de membros sempre foram rígi-dos, tendo o grupo alcançado 80% de médicos com doutorado. Entretanto, as condições para se tornar membro foram modificadas com a intenção de atrair mais pesquisadores, principalmente os mais jovens, e neurocientistas de outras áreas da saúde e da biologia. Os eventos científicos foram o objetivo maior da SBIN. Foram realizadas 18 edições. A diretoria e os membros da SBIN reconheceram que a Academia Brasileira de Neurologia, e as outras sociedades de incentivo às neurociências, estavam trabalhando para a continuidade do aumento exponencial da produção científica em ciências neurológicas no Brasil, compreendendo que seus propósitos estavam cumpridos. A sociedade se desfez em dezembro de 202 (AU)

"I'm gonna lose my strength, I'm gonna seize and die, And all that Jazz"! Neurological diseases in jazz legends / "I'm gonna lose my strength, I'm gonna seize and die, And all that Jazz"! Doenças neurológicas em lendas do jazz

ABSTRACT 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.

RESUMO Embora o jazz seja um estilo musical que prima pela improvisação e pelo virtuosismo, não é isento de drama e tragédia, e as biografias dos músicos de jazz e a sua morte estão repletas de dificuldades sinistras e terríveis. Alguns desenvolveriam doenças crônicas e fatais. São brevemente discutidas as doenças neurológicas que afligiram os seguintes seis compositores e músicos, todos eles considerados lendas do jazz: Charles Mingus, diagnosticado com esclerose lateral amiotrófica; Lester Young e Charlie Parker, ambos com neurosífilis; Thelonius Monk, que teve uma possível demência frontotemporal; George Gershwin, que morreu em decorrência de glioma cerebral; e Cole Porter, que desenvolveu dor de membro fantasma após uma amputação. A associação do estilo de vida com o abuso de drogas, particularmente álcool e heroína, além de promiscuidade sexual, contribuiu para o desenvolvimento de uma série de doenças, por exemplo, a sífilis. Também descrevemos algumas fatalidades, como doenças neurodegenerativas e glioma cerebral.

Evaluation of Brain SPECT with 99mTc-TRODAT-1 in the Differential Diagnosis of Parkinsonism.

Introduction: Brain SPECT with 99mTc-TRODAT-1 (SPECT-TRODAT) may be a useful tool in the differential diagnosis of Parkinsonism. Objective: To compare results of SPECT-TRODAT with clinical findings in patients with Parkinsonism. Methods: We evaluated 153 outpatients. SPECT-TRODAT results were visually analyzed into normal, abnormal, symmetric, and asymmetric, and according to the degree of impairment into mild, moderate, marked, and severe (1-4). Results: A direct relationship was found between motor scores severity (MDS-UPDRS-III) and SPECT-TRODAT-reduced binding in general, in the group of patients with synucleinopathies (rho = 0.258, p=0.005), especially in patients with Parkinson's disease (rho = 0.204, p=0.049). Changes in SPECT-TRODAT had high correspondence with symmetry in all Parkinsonism. When comparing groups to the correspondence predominantly bilateral or unilateral impairment in SPECT, there was a difference between patients with SNP (p=0.041) and between this group and patients with secondary Parkinsonism (SP) (p < 0.0001). It was handy in differentiating drug-induced Parkinsonism from synucleinopathies. In the group of drug-induced Parkinsonism, younger people were the ones who showed the most significant reductions in radiotracer uptake. In this group, nonmotor signs resulted in examinations with more significant reductions in radiotracer uptake. When the scans without alterations and those that did not correspond to the symmetry were considered negative, SPECT-TRODAT's accuracy and specificity to differentiate PD from other forms of Parkinsonism were low. There was an inverse correlation between the severity of the SPECT-TRODAT result and the absence of nonmotor signs in patients with drug-induced Parkinsonism. Conclusion: The authors concluded that the SPECT with 99mTc-TRODAT-1 was mainly useful in differentiating between synucleinopathies and secondary Parkinsonism.

Functionality and disease severity in spinocerebellar ataxias.

BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. OBJECTIVE: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). METHODS: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). RESULTS: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were "expression" and "shopping", respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was "means of transport" in Lawton-IADL and the domain "locomotion" in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. CONCLUSIONS: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.

Functionality and disease severity in spinocerebellar ataxias / Relação entre a função e a gravidade nas ataxias espinocerebelares

ABSTRACT Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. Objective: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). Methods: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). Results: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were "expression" and "shopping", respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was "means of transport" in Lawton-IADL and the domain "locomotion" in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. Conclusions: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.

RESUMO Antecedentes: As ataxias espinocerebelares (SCA) são um grupo de doenças neurodegenerativas caracterizadas pela deterioração do equilíbrio e da funcionalidade, que tende a acompanhar a progressão da doença. Não existe uma ligação estabelecida entre os marcadores clínicos formais de gravidade e escores funcionais e de equilíbrio que possam orientar as equipes de reabilitação. Objetivo: Avaliar a relação entre escalas funcionais e de gravidade da ataxia, buscando identificar pontos de corte para a perda funcional relacionados aos escores de gravidade e aos patamares de Risco de Quedas. Métodos: Uma amostra consecutiva de 89 pacientes com diagnóstico molecular de SCA (31-SCA2 e 58-SCA3) foram avaliados para funcionalidade MIF-AVDs (Medida de independência funcional-Atividades da vida diária) e Lawton-AIVDs (Atividades instrumentais da vida diária), equilíbrio (EEB-escala de Equilíbrio de Berg), e gravidade da ataxia (SARA-escala para avaliação e graduação de ataxia). Resultados: Os principais pontos de corte de deficiência foram: com 12 pontos no SARA começa a necessidade de supervisão para MIF-AVDs e com 14 pontos no SARA começa a necessidade de supervisão para Lawton-AIVDs. Os primeiros itens a necessitar de assistência foram "expressão" e "compras", respectivamente. Com 20 pontos no SARA os pacientes eram dependentes em todos os itens MIF/LAWTON. O item com maior impacto na discriminação entre dependentes e independentes foi "meio de transporte" na Lawton e o domínio "locomoção" na MIF. O escore médio no SARA foi de 9,9 pontos para pacientes classificados com baixo risco na EEB, 17,4 para médio risco e 25,2 para alto risco. Conclusões: A análise da correlação entre a gravidade da ataxia e as escalas funcionais pode ser um importante guia no entendimento da progressão da dependência funcional em indivíduos com SCA.

"I'm gonna lose my strength, I'm gonna seize and die, And all that Jazz"! Neurological diseases in jazz legends.

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.

Treatment of occipital neuralgia using onabotulinum toxin A.

OBJECTIVES: To determine the effectiveness of botulinum toxin in a sample of patients diagnosed with greater occipital nerve neuralgia. MATERIAL AND METHODS: Twenty-nine patients (28 females, 1 male) were treated for greater occipital nerve neuralgia with onabotulinum toxin type A; the Visual Analog Pain Scale was used to determine pain severity at treatment and again 12 weeks after application. RESULTS: Average doses of onabotulinum toxin type A of 18.66±6.44 U per nerve and 35.96±12.89 U per patient were utilized. Average pain severity among the sample was 9.81±0.89 prior to botulinum toxin application and 3.68±2.31 points (p<0.0001) twelve weeks after application. Pain frequency decreased from 29.93±0.37 to 12.17±11.05 days with pain per month (p<0.0001). Six patients reported absence of pain after application (p=0.023). Dose did not correlate with the degree of clinical response observed, and no side effects were reported. CONCLUSION: Our findings suggest onabotulinum toxin type A is a safe and effective treatment alternative for patients suffering from refractory greater occipital nerve neuralgia.

Constantin von Economo´s 90th death anniversary.

The year of 2021 marks 90 year since the death of the neuroscientist Constantin von Economo, whose research in various areas was extremely relevant for the field of neurology. He described lethargic epidemic encephalitis, published an atlas of the cytoarchitecture of the human cerebral cortex, and conducted multiple studies in neuroanatomy, neurophysiology, and clinical neurology. Von Economo's genius extended into other nonmedical fields such as aeronautics, and he had renowned artistic skills.

Constantin von Economo´s 90th death anniversary / O 90º aniversário da morte de Constantin von Economo

ABSTRACT The year of 2021 marks 90 year since the death of the neuroscientist Constantin von Economo, whose research in various areas was extremely relevant for the field of neurology. He described lethargic epidemic encephalitis, published an atlas of the cytoarchitecture of the human cerebral cortex, and conducted multiple studies in neuroanatomy, neurophysiology, and clinical neurology. Von Economo's genius extended into other nonmedical fields such as aeronautics, and he had renowned artistic skills.

RESUMO O ano de 2021 marca o 90° aniversário da morte do neurocientista Constantin von Economo, ou Constantin Freiherr (Barão) von Economo. Von Economo realizou várias pesquisas de grande relevo na área da neurologia, com a descrição da encefalite letárgica epidêmica, a publicação do atlas sobre a citoarquitetura do córtex cerebral humano, além dos seus múltiplos estudos em neuroanatomia, neurofisiologia, bem como na neurologia clínica. A genialidade de von Economo se estendeu para outras áreas não médicas, com o seu grande interesse em aeronáutica, como piloto de avião, além dos seus reconhecidos dotes artísticos.

Charcot and His Passion for Dogs: A Historical Note.

Jean-Martin Charcot, one of the most brilliant neurologists in history, was a man of few words and few gestures. He had an impenetrable and unmovable face and was described as being austere, reserved, and shy. In contrast, in his personal life, he was a softhearted man who loved animals - especially dogs. In this historical note, we sought to look into the past and learn more about Dr. Charcot's personal life - which was robustly impacted by his passion for dogs.