A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease usually associated with severe weakness and death within 2-5 years. SOD1 mutations cause hereditary ALS in autosomal dominant and rarely in recessive pattern. We describe a new phenotype of slowly progressive fALS due to homozygous SOD1 mutations (c.

A MEDICAL AND NEUROPSYCHIATRIC MANAGEMENT SURVEY IN A BRAZILIAN COHORT OF PATIENTS WITH INFLAMMATORY BOWEL DISEASE (IBD).

Background: Inflammatory bowel disease (IBD) can be accompanied by several neurological disorders. Since 2004, we started a Brazilian cohort to assess neuropsychiatric complications in IBD patients. Changes in therapeutic strategy and differences in the prevalence and relevance of neuropsychiatric disorders have been reported in the literature.

Anti-MAG neuropathy: historical aspects, clinical-pathological correlations, and considerations for future therapeutical trials.

Background:  Patients with anti-MAG neuropathy present with distal demyelinating polyneuropathy, IgM monoclonal gammopathy, and elevated titers of anti-MAG antibodies.

Objective:  This paper reviews what is known about the clinical presentation, course, pathophysiology, and treatment of anti-MAG neuropathy, with considerations for the design of therapeutic trials.

Methods:  A literature review of the medical and scientific literature related to anti-MAG neuropathy, and the design of therapeutic clinical trials in peripheral neuropathy.

A web-based survey to map the electromyography practice in Brazil.

Background:  Detailed information about the electromyography practice in Brazil is largely unavailable.

Objective:  To evaluate where and how electromyography is performed in Brazil, as well as regional disparities and the professional and academic credentials of electromyographers.

Methods:  We conducted an internet-based survey of active Brazilian electromyographers.

Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology.

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 definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in ALS patients.

Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial.

Background: Wilson disease is an inherited disorder of copper transport. Whereas penicillamine is used therapeutically to re-establish copper balance, trientine is indicated for patients with penicillamine intolerance. We aimed to compare penicillamine with trientine tetrahydrochloride (TETA4) for maintenance therapy in patients with Wilson disease.

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1).

ALS due to a novel TBK1 mutation in Brazil.

TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset).

Position-dependent arm dyskinesia due to severe craniocervical malformation.

Context: Spinal-generated movement disorders are a complex group of medical conditions, frequently misdiagnosed, originating in the spinal cord or from combined peripheral and central nervous system involvement. In this case report, we describe a novel form of position-dependent dyskinesia due to severe craniocervical malformation.

Findings: An 83-year-old woman with basilar invagination at the C2 vertebra above the line of Chamberlain, occipitocervical lordosis, platybasia with a short clivus, ankylosis of the C1-C2 complex and fusion of the C1 arch developed an unusual pattern of position-dependent left arm dyskinesia triggered by bending her neck forward with simultaneous contact of the flexed elbow with a flat surface.

Neuropathy and primary headaches affect different subgroups of inflammatory bowel disease patients.

Background: Peripheral neuropathies (PN) and primary headaches (PH) are common comorbidities in inflammatory bowel disease (IBD) patients. We aimed to evaluate whether PN and PH affect the same subgroups of IBD patients.

Methods: Since 2004, we established a cohort study to evaluate neurological diseases in IBD patients.

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy.

Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-modifying treatments available. This review consists of a consensus for the diagnosis, management and treatment for transthyretin familial amyloid polyneuropathy from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology.

Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology.

The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN). Fifteen neurologists (members of the Brazilian Academy of Neurology) reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission.

Levodopa enhances immobility induced by spinal cord electromagnetic stimulation in rats.

Background: The repetitive ElectroMagnetic Stimulation (rEMS) is an innocuous method applied to modulate neurocircuits in real-time to study the physiology of the central nervous system and treat neuropsychiatric conditions. Preliminary data suggest that spinal rEMS induces behavioral changes in awake rats. However, the mechanisms behind this phenomenon remain largely unknown.

Small (autonomic) and large fiber neuropathy in Parkinson disease and parkinsonism.

Background: Recent studies have reported that peripheral neuropathy (PN) is common in patients with Parkinson's disease (PD) and raised the possibility that levodopa neurotoxicity is the main culprit.

Methods: We evaluated the presence of large & small (autonomic) fiber PN in 54 consecutive patients with PD or parkinsonism in a tertiary outpatient clinic from Brazil. Initial PN screening consisted of history/neurological exam and skin wrinkling test (SWT).

Pathological laughter and crying: A case series and proposal for a new classification.

Background: Disorders of laughter and crying (DLC) are seen in several neuropsychiatric conditions. Their nomenclature remains under debate.

Methods: We present the clinical and imaging findings of 17 patients with DLC and introduce a new classification based on phenomenology and pathogenesis.

Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome.

Background: Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine.

Case Report: A 79-year-old female was referred for evaluation of right hemiparesis.