Helio A G Teive

• MD, PhD
• Head of Department at Federal University of Paraná

Background Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint−) of interruptions in the repeat is not clear. We aimed to describe the relations between ATTCTint + and age at onset, seizures, and neurologic severity in ataxic and no...

Objectives To highlight the worldwide presence of CSF1R-related disorder (CSF1R-RD), discuss its penetrance, and provide the first haplotype analysis. Methods Data on patients worldwide were collected, including demographics, genotype, family history, and clinical status. For haplotype analysis, polymorphisms of short tandem repeats in 3 distinct...

Patients with advanced Parkinson’s disease often suffer from severe gait and balance problems, impacting quality of live and persisting despite optimization of standard therapies. The aim of this review was to systematically review the efficacy of STN-DBS programming techniques in alleviating gait disturbances in patients with advanced PD. Searches...

Henrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called Sjögren's syndrome, and a fishing net aspect retinal pigmentation affecting visual acuity, nowa...

Background Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset. Methods Upper spinal c...

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 finall...

Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize...

Gait and balance difficulties pose significant clinical challenges in Parkinson’s disease (PD). The impairment of physiological mechanisms responsible for maintaining natural orthostatism plays a central role in the pathophysiology of postural instability observed in PD. In addition to the well-known rigidity and abnormalities in muscles and joints...

Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. We conducted a comprehensive systematic literature review on the DY of NGS t...

Background: Parkinson's disease (PD) is initially characterized by a rigid-akinetic syndrome and later by the development of postural instability. This condition often leads to balance impairments, potentially resulting in postural deformities and foot asymmetry. This study aimed to assess balance changes in PD patients. Methods: We evaluated 56...

Objectives Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA- FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA- FGF14 ataxia in a large cohort of Brazilian pat...

Bi-allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herei...

Background Handicap is a patient‐centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late‐stage Parkinson's Disease (PD). Objective To characterize the handicap of a broader sample of patients. Methods A cross‐sectional study of 405 PD patients duri...

Rita Levi-Montalcini was a researcher in the field of neuroscience, Italian and Jewish in origin, who discovered the nerve growth factor and rightfully earned the 1986 Nobel Prize in Physiology or Medicine, alongside her collaborator Stanley Cohen. She was persecuted by the fascist dictatorship of Benito Mussolini and experienced gender and religio...

A case report of a patient with SPG 11 and cutis verticis gyrata.

This paper discusses one of Charcot's lectures, where he presents his own experiences as a migraine sufferer.

The classic 1966 description of locked-in syndrome was performed by Plum and Posner. Here, we revisit the world's first case report of this condition, which was presented in 1875 by Camille Darolles, an intern supervised by François Damaschino, at a monthly meeting of the Société Anatomique de Paris chaired by Jean-Martin Charcot. We also review th...

Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; acc...

The Brazilian Society of Neurological Research (SBIN) was founded on December 19, 2000, by a group of neurologists headed by Professor Lineu César Werneck, MD, Ph.D., to promote scientific development and cultural diversity in neurology and neurosciences. The criteria for members’ admission have always been strict, and the group reached 80% of phys...

The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xant...

“On Chorea” by George Huntington was published on April 13, 1872, in The Medical and Surgical Reporter of Philadelphia. Despite being a milestone in the recognition of the disease that later would bear his name, some myths and curiosities continue to surround the history of this publication and its author. In this History, the authors pay tribute t...

More frequent use of next-generation sequencing led to a paradigm shift in assessing heredodegenerative diseases. This is particularly notable in progressive myoclonus epilepsy (PME) and progressive myoclonus ataxia (PMA) where a group of disorders linked to novel genetic mutations has now been added to these phenotypical realms. Despite the histor...

Jean-Martin Charcot was one of the most influential physicians of the nineteenth century and is now rightly considered the father of Neurology. The aim of this paper was to review and describe Charcot’s close relationships to Britain and the influence of this particular affinity on his career.

e-letter Reader Response: Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy: A Prospective Study https://n.neurology.org/content/reader-response-progression-nigrostriatal-denervation-cerebellar-multiple-system-atrophy

Background Spinocerebellar ataxia (SCA) presents different rates of functional decline depending on the type of ataxia. Objective To compare the progression of disability, imbalance and severity of ataxia in patients with the three most common types of SCA in southern Brazil. Methods: 126 patients (31-SCA2, 58-SCA3 and 37-SCA10) were stratified in...

The cerebellar cognitive affective syndrome (CCAS; or Schmahmann's syndrome) has been consistently described in patients with spinocerebellar ataxias (SCA), but there is a very limited data on the cognitive profile of patients with SCA type 10 (SCA10). We read with great interest the article published by Chirino-Pérez et al (2021) entitled “Cogniti...

Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, res...

The significant increment in life expectancy, associated to the existence of high-performing older adults, and the appropriate diagnosis of early dementias, lead to an uncommon scenario, of healthy parents accompanying their children with Alzheimer’s disease or another dementia to medical consultations. Here, we reported three peculiar clinical vig...

Background: Parkinson's disease affects approximately 1% of the worldwide population older than 60 years. This number is estimated to double by 2030, increasing the global burden of the disease. Patients with Parkinson's disease are hospitalized 1.5 times more frequently and for longer periods than those without the disease, increasing health-rela...

Background Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia due to pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive decline, choreoat...

Introduction The Uruguayan physician Francisco Soca, who specialized in neurology in Jean-Martin Charcot’s clinic, defended a thesis at the Paris Faculty of Medicine in 1888 on Friedreich's ataxia in eleven patients. In this work he described the presence of toe phenomenon. Objective This historical note presents a toe sign described by the Soca e...

Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr. Keywords: Spinal muscular atrophy; amyotrophic lateral sc...

Raymond Garcin, professor of neurology in Paris, France, and his Brazilian assistant, Professor Roberto Melaragno described in 1948 the phenomenon defined as “bégaiement de la mise en route du mouvement” in patients with Parkinson’s disease. This was one of the first descriptions of freezing of gait (FOG) in the world.

Background: Cervical dystonia (CD) involves clinical and motor manifestations, and visual and cognitive dysfunctions may also be frequent. Objective: To evaluate functional vision, visual attention, and cognitive aspects in patients with CD compared with a control group. Methods: Fifty patients with CD were assessed using the Useful Field of V...

Objective: The mains objective of this study was to evaluate the presence and presentation of muscle cramps in the different forms of SCAs. Background: Spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative disorders, characterized by progressive damage to the structures of the cerebellum and its connections. The most common...

Objective: To evaluate how patients with the three most common types of SCAs in Southern Brazil progress with regards to overall function, disease severity, balance and risk of falls. Background: Spinocerebellar ataxia (SCA) presents different rates of functional decline depending on the molecular subtype.

Objective: To describe volumetric changes of gray matter in patients with SCA3 and SCA10, and compare these findings with a age and sex matched control group, using magnetic ressonance imaging. Background: Spinocerebellar ataxia type 3 (SCA 3) is the most common inherited cerebellar ataxia in Brazil. Spinocerebellar ataxia type 10 (SCA 10) is foun...

Objective: To analyze changes observed in DTI parameters and correlate these to clinical findings in SCA3 and SCA10 patients. Background: There is a dearth of studies of spinocerebellar ataxias (SCAs) and diffusion tensor magnetic resonance imaging (DTI).

Objective: This study aims to verify if SCA10 patients are more likely to develop cancer than the healthy population. Background: Spinocerebellar ataxia type 10 (SCA10) is caused by an expanded ATTCT pentanucleotide repeat of the ATXN10 gene. This expansion binds to the hnRNP K protein and inactivates it, causing massive translocation of PKCδ to m...

Objective: To evaluate the relationship between functional and ataxia severity scales in order to identify cutoff landmarks for disability and estimate the mean SARA score for the risk for falls on the Berg balance scale. Background: SpinocerebellarAtaxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance a...

Huntington’s disease (HD) is a rare neurological disorder characterized by progressive motor, cognitive, and psychiatric disturbances. Although striatum degeneration might justify most of the motor symptoms, there is an emerging evidence of involvement of extra-striatal structures, such as the cerebellum. To elucidate the cerebellar involvement and...

Jean-Martin Charcot, considered the father of modern neurology, had a complex personality featuring well-defined characteristics of introversion, competitiveness, irony, and skepticism. While biographers have described him as Republican, anticlerical, and agnostic, the literature also presents evidence that he came to admire Buddhism toward the end...

Although there are no records of personal meetings between Alfred Nobel and Jean-Martin Charcot, they both lived in Paris at the same time and may have met. The two shared a common important contact: Pedro II, Emperor of Brazil. He was Charcot’s friend and patient, and an admirer of chemistry who decorated Nobel with the Imperial Order of the Rose.

O Trabalho entitulado: Upward gaze palsy in spinocerebellar ataxias Apresentação em Pôster durante o II CONGRESSO BRASILEIRO DE NEUROGENÉTICA, organizado pela Academia Brasileira de Neurologia e pela Associação Paulista de Medicina, realizado nos dias 11, 12 e 13 de março de 2021, tendo como Apresentador e Autor Principal Gustavo Franklin e Co-auto...

Autosomal recessive cerebellar ataxia type 1 (ARCA-1) or spinocerebellar ataxia autosomal recessive type 8 (SCAR8) is a slowly progressive neurodegenerative disorder that occurs due to mutations in the spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene. Previously considered a rare cause of ARCA, related to French-Canadian patients...

Jean-Martin Charcot is considered the father of modern neu-rology; alongside his work as a physician, professor, and researcher in this area, he was also artistically gifted with a taste for caricature. This historical note summarizes 8 caricatures by Charcot that exhibit a mixture of humor, satire, irony , and sarcasm.

e-Letter replaying: Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, View ORCID ProfileAnnette M. Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schütz, Alexande...

Alpha-synuclein is a protein that forms a major component of abnormal neuronal aggregates known as Lewy bodies. A particular group of neurodegenerative disorders (NDs) is characterized by the abnormal accumulation of α-synuclein; termed the α-synucleinopathies, this group includes Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multi...

Context: We present a noteworthy reminder of Wilson disease’s classical manifestations, which may become rarer in clinical practice as availability of genetic tests increases, allowing timely diagnosis and treatment. Case report: A 29 year-old woman developed progressive and asymmetric upper limb tremor and dystonia over 1 year, along with speech a...

The authors review the role of Jules Bernard Luys in the discovery of the subthalamic nucleus (STN) over 150 years ago. The relationships between the STN and movement disorders, particularly hemiballismus and Parkinson’s disease, are well known. The academic life of Jules Bernard Luys can be divided into two periods: a brilliant start as a neuroana...

e-letter about Guo J, Chen H, Biswal BB, et al. Gray matter atrophy patterns within the cerebellum-neostriatum-cortical network in SCA3. Neurology Epub 2020 Dec 1. DOI: https://doi.org/10.1212/WNL.0000000000010986 https://n.neurology.org/content/reader-response-gray-matter-atrophy-patterns-within-cerebellum-neostriatum-cortical-network

Objectives Limitations of functional capacity and balance are common features of the natural history of spinocerebellar ataxias (SCA). However, their onset and progression patterns differ according to subtype. The aim of our study was to compare physical functionality and balance parameters in SCA10 and SCA3 patients, correlating with clinical vari...

Background: Huntington's disease (HD) is a progressive disorder characterized by motor, cognitive and psychiatric features. Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum. Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD. Methods: Seventy...

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 in...

e-letter - replay to the article by Macerollo et al. entitled “Non-invasive intervention for motor signs of Parkinson’s Disease: the effect of vibratory stimuli.” https://jnnp.bmj.com/content/early/2020/09/11/jnnp-2020-323427.responses#vibration-therapy-for-parkinsons-disease-another-lesson-from-charcot

Background: Patients with advanced stage Parkinson's disease (PD) typically present with a myriad of motor and nonmotor symptoms in addition to comorbidities and, as a consequence, polypharmacy. Objective: To analyze a series of cases of advanced PD in which a clinical or surgical emergency played a trigger role in the irreversible progression o...

Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some symptoms and signs might help differentiate the SCAs. This study’s aims were to evaluate the frequency of upward gaze palsy (UGP) and investigate its role in a...

A 14-year-old boy presented with progressive incoordination and cognitive issues. Family history was negative for any neurological condition. Examination revealed cerebellar ataxia and cognitive impairment as well as prominent ocular conjunctival telangiectasia (figure), which made ataxia-telangiectasia, a recessive disorder, a plausible diagnostic...

Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs. Background: Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some sympto...

Introduction – There is a dearth of studies of spinocerebellar ataxias (SCAs) and 3 diffusion tensor magnetic resonance imaging (DTI). Objective – To analyze changes 4 observed in DTI parameters and correlate these to clinical findings in SCA3 and SCA10 5 patients. Methods – SCA3 (n=19) and SCA10 (n=18) patients were compared with a 6 similar numbe...

Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-...

In no country has the duel prevailed to such a great extent as in France where the matter of dueling and affairs of honor were of frequent occurrence until the 20th century. The term duel has since been established for any contest between 2 persons or parties, be they sporting, intellectual, political, or in other matters. Despite their worldwide r...

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as we...

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Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both early and late on HD progression and correlate with the degree of involvement of classic motor symptoms. Background: Huntington’s disease (HD) is a hereditary degenerative disorder characterized by progressive motor, cognitive and psychiatric changes. Motor sympt...

Objective: Objective: To evaluate the relationship between chronic pain and wearing-off in Parkinson's disease patients. Background: Background: Pain is a frequent non-motor symptom

Objective: Objective: To investigate the presence and correlation of dysautonomia with the severity of hereditary spastic paraplegias (HSP). Background: Background: Hereditary spastic paraplegias (HSP) are

Large expansions of microsatellite DNA cause several neurological diseases. In Spinocerebellar ataxia type 10 (SCA10), the repeat interruptions change disease phenotype; an (ATTCC)n or a (ATCCT)n/(ATCCC)n interruption within the (ATTCT)n repeat is associated with the robust phenotype of ataxia and epilepsy while mostly pure (ATTCT)n may have reduce...