Acary Souza Bulle Oliveira

Federal University of São Paulo | UNIFESP · Departamento de Neurologia e Neurocirurgia

Introdução. A escoliose é caracterizada como um desvio lateral na coluna vertebral, que pode ser acompanhado de componente rotacional, resultando em uma curvatura com angulação variável, conforme medida pelo ângulo de Cobb. Escoliose é um achado descrito em doenças neuromusculares que levam a comprometimento de musculatura paravertebral, que deve s...

Background: This study evaluated the effectiveness of radio electric asymmetric conveyer (REAC) neurobiological optimization treatments on muscle strength (MS) in individuals with post-polio syndrome (PPS), a condition causing new muscle weakness in polio survivors. Traditional treatments focus on symptom management, whereas REAC technology uses ra...

Background: Transthyretin cardiac amyloidosis (ATTR-CA) is a life-threatening heart condition due to mutations in the transthyretin (TTR) gene. This study aimed to investigate ventricular global longitudinal strain (GLS) and global circumferential strain (GCS) alongside traditional echocardiographic measures in TTR carries with preserved ejection f...

Entender os rumos que a ciência e especificamente a Nutrição tem dado nos estudos para doenças neurodegenerativas como a ELA pode representar uma luz numa caminhada muitas vezes dura e complexa para o paciente, sua família e todos os profissionais da saúde que o acompanham. Para nós profissionais da saúde o desafio é gigantesco pois muitas vezes a...

Post-polio syndrome (PPS) brings new challenges for polio survivors, including muscle decline, pain, depression, and diminished quality of life. This study explored the potential of REAC neuromodulatory treatments to ease pain, improve mood, and enhance quality of life in PPS patients. 17 individuals with PPS (average age 54.8) received three REAC...

A 72-year-old Brazilian woman presented with a 4-year history of rest tremors of the hands, followed by slowness of movement, and a diagnosis of idiopathic Parkinson’s disease. She was started on dopamine agonists with significant improvement. After three years, she complained about slowly progressive dysphagia, dysphonia, quadriparesis, and cramps...

Leukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still needs the proper identification of diagnostic, prognostic, and monitoring biomarkers. The aim of th...

Background Acute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential biomarker for AHP. Methods We conducted a cross-sectional observational study to evaluate NfL levels i...

Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currentl...

An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. A neurological examination disclosed spastic dysarthria, left ey...

Post-Polio Syndrome (PPS) is a chronic condition characterized by the emergence of new symptoms and functional decline in individuals who previously had polio. Despite advances in medical understanding, management of PPS remains challenging. This study aimed to evaluate the use of neurobiological modulation treatments using Radio Electric Asymmetri...

Background Retroviruses are described as a risk factor for chronic neuropathy. However, it is still unknown if they can work as amyotrophic lateral sclerosis triggers. Over the years, some cases of this association have been described with heterogenous disclosures. Case Representation This study aimed to report a case of HIV and ALS-like neuropath...

The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results of an educational consensus organized by the Brazilian Academy of Neurology to evaluate the definitio...

Case Report. A 40-year-old Brazilian man presented with long-standing loss of balance, dystonia, and choreoathetosis, with episodic paroxysmal worsening. Neuroimaging and cerebrospinal fluid analysis were both unremarkable. Quantitative urine organic acid analysis, plasma acylcarnitine quantitative profile, and quantitative analysis of plasma amino...

This editorial manuscript discusses the main aspects related to the content of the Special Issue “The expanding clinical and genetic basis of Adult Inherited Neurometabolic Disorders” published in Frontiers of Neurology, highlighting the milestones of the recent advances related to the diagnosis and treatment of Adult Inherited Neurometabolic Disor...

Introduction: The term polyneuropathy refers to a generalized involvement of peripheral nerves, usually involving mainly the distal nerves and, more often, presenting with sensory, motor, and autonomic symptoms and clinical findings. Drug-induced peripheral neuropathy (DIPN) is a persistent condition, most often associated with anticonvulsants, che...

Em 1976, a escritora Adélia Prado lança o livro chamado Bagagem. Após 24 meses, ano de meu nascimento, O coração disparado é agraciado com o prêmio Jabuti. Em conversa telefônica com uma amiga estudante, concordamos que o “real professor” é aquele que mantém o prazer permanente em ensinar e aprender, ou seja, um irrequieto investigador, carregado d...

Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (RYR1) pathogenic variants. We described here an 18-year-old male who reported a cervical nodule. Magnetic resonance images revealed a mass in th...

Acute anterior poliomyelitis can be defined as an endemic human disease, caused by an enterovirus of worldwide distribution, which frequently affects the anterior horn of the spinal cord, causing paresis and amyotrophy in an asymmetric and disproportionate form. Years after the acute event of the previous poliomyelitis, practically 80% of the patie...

A 38-year-old Brazilian man presented with slowly progressive quadriparesis since age 11 years. He progressed over 15 years with symptoms restricted to the lower limbs, and since then, with a progressive compromise of the upper limbs. His deceased brother had a similar clinical presentation. Examination showed spastic dysarthria, global amyotrophy,...

Importance In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC) percent predicted and 6-minute walk test (6MWT) compared with alglucosidase alfa. Objective To report avalglu...

The term concussion was initially described by the Nigerian physician, later declared an American citizen, Bennet Ifeakandu Omalu. A forensic pathologist and neuropathologist who was the first to discover and publish, along with two other American researchers, neuroaptologic findings on chronic traumatic encephalopathy (CTE) in American football pl...

Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually und...

Syndrome OMIM number: #105120

Syndrome OMIM number: #277460

Syndrome OMIM number: #272800; #272750

OMIM: #609060, #610498, #610505, #610678, #611719, #300816, #613559, #614096, #614582, #614702, #614922, #614924, #614932, #614946, #614947, #615395, #615440, #615578, #615595, #615917, #615918, #616045, #616198, #616239, #616430, #616539, #616672, #616794, #616811, #616974, #617228, #617664, #617713, #617872, #617873, #617950, #618329, #618378, #6...

Female, 54-year-old, began with weakness in her right hand and loss of dexterity. Four months after initial symptoms, patient developed sudden onset vertigo. She progressed with difficulties in coordination, dystonic posture and involuntary movements in her right arm. Family also reported insomnia and cognitive impairment. Ten days later, she had n...

A.V.S., 57-year-old, had delayed motor development milestones, walking at the age of three with slow progression of symptoms which later stabilized. At the age 31 he noticed a new worsening, with proximal lower limbs weakness and the need for unilateral support while walking. He reports a history of Poliomyelitis. Neurological examination showed th...

A male patient, 44-year-old, presents with severe abrupt myalgia in the upper and lower limbs, with evolution to muscle weakness after two weeks. After 40 days, he developed intermittent fever and night sweats. Personal history of anorectal abscess drainage. The neurological exam evidenced discreet muscular hypotrophy of the lateral and medial port...

Introduction: Neurotropic and neuroinvasive tropism of coronaviruses have been described in humans. Neurological disorders reported in the current literature in patients with coronavirus infection include: febrile seizures, fatigue, cognitive impairment, asthenia, hyposmia, ageusia, seizures, loss of consciousness, encephalomyelitis and encephaliti...

Background Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the nervous system that primarily affects motor neurons. ALS type 8 (ALS8) is a familiar form with predominant involvement of lower motor neurons, tremor, and slow progression. Objective The aim of this study was to describe sensory involvement in a cohort of ALS8 patients...

Purpose Poliomyelitis is an infectious disease that can cause total paralysis. Furthermore, poliomyelitis survivors may develop new signs and symptoms, including muscular weakness and fatigue, years after the acute phase of the disease, i.e., post-polio syndrome (PPS). Thus, the objective was to compare the functional exercise capacity during maxim...

Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in A...

Background Transthyretin Amyloidosis (ATTR) is a rare genetic cause of potentially fatal infiltrative cardiomyopathy. This is the commonest form of inherited restrictive cardiomyopathy. The Transthyretin (TTR) gene is located on chromosome 18q12.1 with autosomal dominant inheritance and variable penetrance. The availability of genetic testing has i...

Background: To determine factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases (NMDs). Methods: NMD cases of any age and confirmed/presumptive COVID-19, submitted to the International Neuromuscular COVID-19 Registry up to 31/December/2021, were included. A mutually exclusive ordinal COVID-19 severity sca...

Introduction: Amyotrophic lateral sclerosis (ALS), also called motor neuron disease (MND), is a progressive, neurodegenerative, and inexorable disease that affects the neurons of the anterior horn of the spinal cord, as well as the lateral funiculus. A rare variant of ALS was first described in 1918 by Patrikios and Marie, called the pseudopolyneur...

Introduction: Post-polio syndrome is defined as a specific clinical condition that affects individuals previously affected by acute anterior poliomyelitis and, undoubtedly, is an exclusion diagnosis. Among the range of differential diagnoses, spina bifida may be one of them. Spina bifida is a condition that affects the spine and is usually apparent...

Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart and skeletal muscles. We aimed to analyze the clinical features, morphology, and distribution of desmin aggregates in skeletal mus...

Transthyretin Amyloidosis (ATTR) is a rare genetic cause of cardiomyopathy. 2-dimensional speckle-tracking echocardiography has been the mainstay of screening and disease surveillance. Studies have evaluated which myocardial alterations result from ATTR cardiac amyloidosis. However, utility of echocardiography for the comprehensive analysis of bive...

Introduction : Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when expo...

Introduction/aim: The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the magnetic resonance imaging (MRI) findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort. Methods: LGMDR1 patients under follow-up in three...

Introduction. Grandparents, in particular, are recognized as the "first line of defense" when families are disturbed, disorganized, or in need, often contributing time, care, and financial resources as needed. The ties between grandparents and grandchildren are known for their diversity of content, covering a wide continuum of care and intergenerat...

Introduction: Lamotrigine is a phenyltriazine compound that inhibits sodium and potassium channels in presynaptic neurons. Maculopapular exanthema is a common side effect of Lamotrigine therapy, occurring most frequently during the first eight weeks of treatment in approximately 3–10% of patients. Case Report: A 74-year-old female had started Lamot...

A Poliomielite Anterior Aguda deixou sequelas nos sobreviventes, fazendo-os necessitar de tratamentos contínuos, tornando-os possivelmente vulneráveis na Pandemia por Covid-19. Este trabalho objetiva analisar a prevalência dos fatores de risco para contrair o COVID-19 assim como, desenvolver a forma grave, entre os pacientes com Sequela de Poliomie...

Charcot–Marie–Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a B...

A Síndrome Pós-poliomielite (SPP), tem como medida terapêutica a utilização de medicamentos para sua sintomatologia; porém, percebe-se também a utilização de diversos fármacos para outras morbidades. O artigo visou investigar o perfil farmacoterapêutico dos pacientes com SPP atendidos em nível ambulatorial num hospital terciário brasileiro, bem com...

Introduction. Through muscle biopsy we can observe the formation of vacuoles that alter the structure of cells and tissues in Pompe's disease. The presence of these vacuoles varies as the disease progresses, relating to the broad clinical spectrum presented by the disease. Objectives. After confirming the disease, examine the possibility of diagnos...

Background Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to...

Background Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy specifically designed for enhanced mannose-6-phosphate-receptor targeting and...

There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral sclerosis (JALS), which are rare and related to retrograde degeneration of motor neurons. ALS2 path...

For patients with autoimmune diseases, the risks and benefits of immunosuppressive or immunomodulatory treatment are a matter of continual concern. Knowledge of the follow-up routine for each drug is crucial, in order to attain better outcomes and avoid new disease activity or occurrence of adverse effects. To achieve control of autoimmune diseases...

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...

Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysiological aspects related to the classical and recently described forms of proximal SMA....

Introduction/Aims Individuals with refractory generalized myasthenia gravis (gMG) who have a history of rituximab use and experience persistent symptoms represent a population with unmet treatment needs. The aim of this analysis was to evaluate the efficacy and safety of eculizumab in patients with refractory anti-acetylcholine receptor antibody-po...

Acute hepatic porphyria represents a rare, underdiagnosed group of inherited metabolic disorders due to hereditary defects of heme group biosynthesis pathway. Most patients have their definite diagnosis after several years of complex and disabling clinical manifestations and commonly after life-threatening acute neurovisceral episodes or severe mot...

A língua portuguesa, indubitavelmente, fora muito ferida nas últimas décadas. Em associação, a anedonia (lentificação da capacidade de sentir interesse e prazer), pairou na leitura de artigos científicos e\ou trabalhos de mestrado e doutorado. Os pesquisadores, salvo raras exceções, encontram-se “disfuncionais” no que tange aos comportamentos assoc...

Resumo A miopatia mitocondrial é causada pela ausência e/ou insuficiência de uma enzina quaternária, L-carnitina, responsável por transportar ácidos graxos livres para a parte interna da mitocôndria. A função da mitocôndria é produzir energia, contribuindo para o bom funcionamento das células. A Lipidose Muscular é uma doença que provoca anomalias...

Introduction: HIV/AIDS frequently affects the Central Nervous System and may cause a cognitive decrease, and compromise the functions of working memory, especially the lexical access that affects the performance of daily activities. Goal: The purpose was to evaluate the ability of lexical access in seniors with HIV, in comparison with HIV-positive...

Background: The influence of changes in body composition on swallowing in patients with Amyotrophic Lateral Sclerosis (ALS) is unknown. Understanding the interrelation between body compartments and dysphagia may establish specific treatments related to both nutritional aspects as to myofunctional ones designed to delay swallowing loss. Aim: The...

Background: Computed tomography (CT) accounts for 13% of all radiological examinations in the United States and 40-70% of the radiation that patients receive. Even with the advent of magnetic resonance imaging (MRI), CT continues to be the gold standard for diagnosing bone fractures. There is uncertainty as to whether CT with a low radiation dose...

Purpose of reviewThe aims of this review are to discuss the imaging modalities used to assess muscle changes in myopathies, to provide an overview of the inherited myopathies focusing on their patterns of muscle involvement in magnetic resonance imaging (MR), and to propose up-to-date imaging-based diagnostic algorithms that can help in the diagnos...