Thiago Cardoso Vale

• Doctor of Medicine
• Professor (Associate) at Universidade Federal de Juiz de Fora

Background: The Movement Disorder Society Non-Motor Rating Scale (MDS-NMS) serves as a comprehensive clinical assessment tool for non-motor symptoms in Parkinson’s disease (PD) Objectives: This study aims to validate the Portuguese version of the MDS-NMS, addressing the critical need for culturally adapted rating scales in Portuguese-speaking popul...

Purpose This study aimed to evaluate the total macular thickness as well as the thickness of the inner and outer retinal layers in patients with Parkinson’s disease. It also aimed to verify the correlation of these parameters with motor symptoms and cognitive function. Methods A total of 46 eyes of 23 patients with Parkinson’s disease and 40 eyes...

Background The MDS‐UPDRS has been available in English since 2008, showing satisfactory clinimetric results and being proposed as the new official benchmark scale for Parkinson's disease (PD), being cited as a core instrument for PD in the National Institutes of Neurological Disorders and Stroke Common Data Elements program. For this reason, the MD...

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...

Background Parkinsonism is strongly associated with ageing, and many studies have suggested that parkinsonian signs may affect up to half of older adults and is associated with a wide range of adverse health outcomes. We compared clinical and functional characteristics of oldest-old community-dwelling individuals with parkinsonism (parkinsonian gro...

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...

Introduction: Basal ganglia calcifications are associated with many neurological and metabolic disorders, being present also on asymptomatic patients. It may present in its primary form, including familial and sporadic cases. Its secondary form is associated especially to hypoparathyroidism but also associated to infections, toxic exposure, rheumat...

Movement disorders comprise a heterogeneous and complex group of neurological disorders that increase (hyperkinetic) or decrease (hypokinetic) the speed or amplitude of movements, or disrupt their coordinated sequencing. In this article, we describe three instructive cases, exemplifying classic movement disorders, namely dystonia, chorea, and ataxi...

Background: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SC...

Background: Structural imaging of the brain is the most widely used diagnostic tool for investigating neurodegenerative diseases. More advanced structural imaging techniques have been applied to early or prodromic phases, but they are expensive and not widely available. Therefore, it is highly desirable to search for noninvasive, easily accessible...

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...

A 40-year-old woman reported involuntary and irregular movements of her left toes accompanied by pain. This arose following arthroscopy after a sprained left ankle. She had involuntary flexion–extension and abduction and adduction movements of the hallux and the other toes, with reduced pinprick sensation on the skin web between the left hallux and...

Background: Headache is the most frequent neurological complaint in the population and the group of tension-type headaches (TTH) is the most prevalent subtype. Nevertheless, more information about the clinical features of headaches in patients attended at specialized centers are demanded. Methods: Cross-sectional, descriptive study. Data from patie...

Background: The International Parkinson and Movement Disorder Society (MDS) Schools for Young Neurologists have been held since 2008 for young clinicians with a special interest in the field of movement disorders (MD). Objective: To update and confirm the results of our previous survey on the perception of the impact of these courses on attendees’...

A 30-year-old man presented with a two-year history of involuntary movements in the face and mouth. Movements progressively worsened during the previous six months. Born from non-consanguineous parents, he had normal developmental milestones and his past medical history was unremarkable. The patient did not take any medication or had a history of i...

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological...

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genet...

We had two cases of female symptomatic carriers of the dystrophin gene, mothers of two boys, both showing duplication of exons disturbing the open reading frame of the DMD gene. Both of them had significant limitation of their functionality, causing limitation in the physical support for their sons. We propose that they should be classified and tre...

Background: Paroxysmal autonomic instability with dystonia (PAID) syndrome, a subset of dysautonomia, is characterized by paroxysms of marked agitation, diaphoresis, hyperthermia, hypertension, tachycardia and tachypnea accompanied by hypertonia and extensor posturing. Case report: We report a 52-year-old man who was severely brain injured and d...

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Neuroanatomy is often considered a difficult subject to teach, due to its broad scope, multitude of terms, and high degree of complexity. Thus, newer educational strategies that facilitate learning while also stimulating students by allowing increased student autonomy and group discussions should be carefully considered. This study aimed to evaluat...

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Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring a true neurological emergency. Acute cerebellar ataxia is a syndrome that occurs in less than 7...

Introduction: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common spinocerebellar ataxia (SCA) worldwide. SCA3 presents with cerebellar ataxia in association with pyramidal signs, peripheral amyotrophy, nystagmus, ophthalmoparesis, fasciculations of the face and tongue, dystonia and parkinsonism. Oromandi...

Introduction: The spectrum of neurologic disorders associated with HIV infection is very broad, resulting from direct virus invasion, opportunistic infections, malignancies and toxic effects of drugs. Methods: Among a large cohort of ataxia patients (N = 1050) evaluated between 2008 and 2017, we detected four patients with HIV-infection who deve...

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Hemidystonia-hemiatrophy syndrome (HD-HA) is a rare disorder characterized by hemiparesis, hemidystonia (HD) and hemiatrophy (HA). The syndrome is part of a spectrum of movement disorders composed by asymmetrical dystonia with or without parkinsonism and body hemiatrophy associated or not to contralateral cerebral hemisphere atrophy on brain magnet...

We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.

We report the case of a 54-year-old right-handed man who presented with a 2-year history of progressive upper-limb weakness with mild dysarthria and prominent involuntary perioral abnormal movements that were characterized as fasciculations. Electromyography disclosed motor neuron disease. The diagnosis of Kennedy’s disease was established by polym...

History A 43-year-old right-handed man presented with a history of progressive mild left-sided weakness and slowness of movements. Symptoms began 4 years earlier, and the patient noticed a progressive decline in his daily routine due to gait difficulties in the past year. There was no history of head trauma, surgery, drug therapy, smoking, or alcoh...

Down syndrome (DS) is the most common genetic cause of intellectual disability. Besides systemic involvement, patients with DS may present with a wide range of neurological manifestations, which include dementia resembling Alzheimer’s disease, seizures, vascular disease and stroke, psychiatric comorbidities, and movement disorders.1–3 Abnormal move...

Sir, We read with interest the recent publication by Smeets et al. (2015) on the generation of transgenic mouse for autosomal dominant spinocerellar ataxia type 23 (SCA23) expressing human prodynorphin ( PDYN ). The manuscript is very well written and profusely documented and it was well demonstrated that expression of mutant human variant p.Arg21...

Ethical statement: Full consent was obtained from the patient for the case report and video publication.

Background: Mutations in GRN (progranulin) and MAPT (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking. Objective: We aimed to investigate the frequencies of GRN and MAPT mutations in FT...

Background: Tics beginning in late adulthood often have an identifiable etiology. Psychogenic tics with onset around 60 years of age are rarely described in the literature. Case report: A 67-year-old female had experienced phonic tics for 8 years. Episodes occurred without premonitory sensations and precipitant factors, and she could not suppres...

A 16-year-old boy presented with a 5-year history of progressive cognitive decline and behavioral change followed by generalized tonic-clonic and myoclonic seizures refractory to many anticonvulsants (valproic acid, phenobarbital, clonazepam, and topiramate) and cerebellar ataxia a year later. The son of consanguineous parents, he had a family hist...

Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the conversion of glutamic acid to the neurotransmitter gamma-amino butyric acid. Antibodies against GAD (anti-GAD-Ab) are associated with an array of autoimmune-related neurological conditions, such as stiff-person syndrome, cerebellar ataxia, epilepsy and limbic encephalitis. The clin...

Study objectives: To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior disorder (RBD) and improved sleep symptoms with immunotherapy. Methods: The two patients were evaluated through clinical scale and polysomnography before and after therap...

The original descriptions of chorea date from the Middle Ages, when an epidemic of ‘‘dancing mania’’ swept throughout Europe. The condition was initially considered a curse sent by a saint, but was named ‘‘Saint Vitus’s dance’’ because afflicted individuals were cured if they touched churches storing Saint Vitus’s relics.Paracelsus coined the term...

Objective: To compare the clinical and radiological features of vascular parkinsonism (VP) and Parkinson's disease (PD). Methods: Cross-sectional study where 15 patients with VP (8 (53.3%) men; aged 75.7 ± 10.4 years) and 30 patients with PD (17 (56.7%) men; aged 67.3 ± 7.5 years) underwent motor and cognitive evaluation and brain MRI. Results:...

Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of phacomatosis pigmentokeratotica in a 28-year-old male who presented with palmar-plantar dysesthesia and ipsilateral brain hemiatrophy. As a characteristic neuroimaging finding of th...

Dengue is currently a major public-health problem. Dengue virus (DENV) is classified into four distinct serotypes, DENV 1-4. After 28 years of absence, DENV-4 was again detected in Brazil in 2010 in Roraima State, and one year later, the virus was identified in the northern Brazilian states of Amazonas and Pará, followed by Rio de Janeiro and São P...

Objective: To present an eight-case serie of patients with Charles Bonnet syndrome (CBS). Method: All patients were initially evaluated by an ophthalmologist and then submitted to a neurologic evaluation with exclusion of alternative psychiatric and neurologic diagnoses. Results: Five patients were male (62.5%) and the mean age was 52.3+16.0 y...

Figueiredo AMÂNCIO(1), Maira Alves PEREIRA(2), Felipe Campos de Melo IANI(2), Lorena D'ANUNCIAÇÃO(2), Jorge Luís Carvalho de ALMEIDA(3), Janer Aparecida Silveira SOARES(4), Marcela Lencine FERRAZ(5), Thiago Cardoso VALE(6), José Roberto LAMBERTUCCI(1) & Mariângela CARNEIRO(1,7) SUMMARY Dengue is currently a major public-health problem. Dengue virus...

A 50-year-old previously healthy woman presented with a 4-day history of low back pain, nausea, vomiting, diarrhea, jaundice, and fever. She developed hypoxemic respiratory insufficiency and a chest radiograph showed diffuse alveolar and interstitial infiltrates. She was promptly intubated and became hemodynamically unstable and developed dialytic-...

We report the case of a 38-year-old woman with AIDS who developed opsoclonus-myoclonus-ataxia syndrome during a period different from other cases reported in literature. Opsoclonus-myoclonus-ataxia syndrome had already been reported as the initial neurological presentation of AIDS, as well as at the time of HIV-seroconversion and immune reconst...

Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD syndrome). It is caused by a mutation in the WFS1 gene (chromosome 4p16.1, involved in regulation of intracellular calcium) that encodes wolframin, a transmembrane protein of pancreatic β cells. WS...

Objective: To report the clinical and neuroimaging findings in a case series of vascular parkinsonism (VP). Methods: Seventeen patients with VP were evaluated with motor, cognitive, and neuroimaging standardized tests and scales. Results: All patients had arterial hypertension. Ten patients were male and the mean age of the whole sample was 75...

Motor neuron disease (MND) is mostly associated with an irreversible course. Spontaneous recovery has been rarely reported. Herein described is a case of a spontaneous recovery of a lower motor neu-ron disease. A 38-year-old man complained of an insidious onset of weakness in the right upper limb that progressed to the lower limbs in 16 months. Phy...

William Richard Gowers (1845-1915) spent his career working at the National Hospital for the Relief and Cure for the Paralyzed and Epileptic at Queen Square, in London, United Kingdom, and at the nearby University College Hospital. His "Manual of the Diseases of the Nervous System" and many published lectures were based almost entirely on his own c...

A 59-year-old woman presented with a 10-day history of involuntary movements of the right body. She initially complained of continuous, irregularly timed, and unpredictable movements of her right hand that ultimately spread to her entire right upper limb, sometimes having an abrupt violent character (video, segment 1, on the Neurology(®) Web site a...

Snake bite envenoming is a disease with potential serious neurological complications. We report a case of an adolescent who was bitten by a rattlesnake and developed bilateral posterior circulation stroke. The rattlesnake was later identified as being Crotalus durissus terrificus. Stroke was probably due to toxic vasculitis or toxin-induced vascula...

Introduction: Despite many advances in the characterization of the behavioral variant of frontotemporal dementia (bvFTD), the diagnosis of this syndrome poses a significant challenge, while delays or diagnostic mistakes may impact the proper clinical management of these patients. Objective: To describe the clinical profile at first evaluation of a...

We report a case of a 41-year-old woman with chagasic cardiomyopa-thy who was submitted to ventricular septal catheter ablation. After the procedure she evolved with new-onset thunderclap headaches followed by migraine-type headaches. Cerebral angiography revealed bilateral segmental stenosis of the middle cerebral arteries. RESUMO Relatamos um cas...

Objective: To analyze the case notes of 127 patients with chorea admitted to the National Hospital at Queen Square, London, under the care of William Richard Gowers and review his contribution to the study of choreas. Methods: We consulted the case books available at the Queen Square Library, from 1878 to 1911, comprising 42 volumes. Results:...

: Schistosomiasis is a tropical disease caused by worms of the genus Schistosoma. It is endemic in the Caribbean Islands, the middle east, eastern Asia, South America, and Africa. In nonendemic areas, physicians should be aware of this condition in travelers returning from endemic areas and in immigrants. The main disease-causing species are Schist...

An 18-year-old man was admitted to the Emergency Unit shortly after having a gunshot wound in the neck. The pa-tient developed an acute flaccid tetraplegia combined with arreflexia and sphincter impairment. He was promptly intu-bated and immobilized with a cervical spine collar. Three-dimensional (3D) cervical computed tomography (CT) scan showed t...

Takayasu's arteritis (TA) has been associated with many conditions. Herein described is a case of TA in a patient with rheumatic fever complicated with Sydenham's chorea. A 17-year-old female presented at age 6 with rheumatic fever followed by chorea a month later. At the age of 16, she developed a blood pressure discrepancy between the arms and fa...

Vascular Parkinsonism (VP) is a form of secondary Parkinsonism resulting from cerebrovascular disease. Estimates of the frequency of VP vary greatly worldwide; 3% to 6% of all cases of Parkinsonism are found to have a vascular etiology. In a Brazilian community-based study on Parkinsonism, 15.1% of all cases were classified as VP, the third most co...

In reply We thank Sellal and Ahle for their accurate comment on our article about idiopathic superficial siderosis.¹ We stated that “xanthochromia or the presence of red blood cells (RBC) in the cerebrospinal fluid (CSF) is a common finding and may be due to damage to a small blood vessel during the procedure (known as ‘traumatic tap’).” We were tr...

General paresis of the insane is a late and severe form of neurosyphilis characterized by nonspecific neuropsychiatric symptoms. There are a limited number of case reports of mood disorders presenting in neurosyphilis, with depressive illness being the most common. We performed a literature review of case reports of secondary bipolar disorder induc...

We report a case of a 46-year-old Brazilian woman, a farmer, who presented with recently uncontrolled epilepsy, daily headaches and ataxia. Cranial CT revealed hydrocephalus which was treated with ventricular drainage. Brain MRI revealed multiple parenchymal cysts of varying stages of neurocysticercosis. In addition, the patient presented with diff...

We report a case of a 51-year-old man with multiple myeloma who presented with lumbar pain and left limb paresis. Cerebrospinal fluid, brain and spinal cord resonance imaging revealed a diffuse infiltration of the cauda equina without any cranial leptomeningeal enhancement. An infiltration limited to the cauda equina is extremely rare.