Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal sensory alterations with an autosomal dominant inheritance pattern. We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar reflexes and positive familial history for the same symptoms. These findings led to genetic testing, which identified a variant in the TFG gene (c.
View Article and Find Full Text PDFBackground: The application of botulinum toxin (BoNT) in the treatment of blepharospasm and hemifacial spasm (HS) is a well-established practice. However, neurology residency programs often rely on real patients for training, which has limitations in terms of patient availability and skill acquisition.
Objective: Assess the efficacy of a new facial phantom model for acquiring motor skills in BoNT application.
Background: Chikungunya is a mosquito-borne disease caused by the chikungunya virus (CHIKV) and can lead to neurological complications in severe cases.
Objective: This study examined neuroimaging patterns in chikungunya cases during two outbreaks in Brazil to identify specific patterns for diagnosis and treatment of neuro-chikungunya.
Methods: Eight patients with confirmed chikungunya and neurological involvement were included.
Sjogren's syndrome (SS) is a complex autoimmune disease characterized by lymphocytic infiltration of salivary and lacrimal glands, resulting in sicca symptoms. Additionally, SS presents with neurological manifestations that significantly impact the nervous system. This review aims to provide a comprehensive overview of the neurological aspects of SSj, covering both the peripheral and central nervous system involvement, while emphasizing diagnosis, treatment, and prognosis.
View Article and Find Full Text PDFA 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc.
View Article and Find Full Text PDFArq Neuropsiquiatr
September 2021
Reported cerebrovascular events in patients with COVID-19 are mainly ischemic, but hemorrhagic strokes and cerebral venous sinus thrombosis (CSVT), especially in critically ill patients, have also been described. To date, it is still not clear whether cerebrovascular manifestations are caused by direct viral action or indirect action mediated by inflammatory hyperactivation, and in some cases, the association may be casual rather than causal. To conduct a systematic review on the cerebrovascular events in COVID-19 infection.
View Article and Find Full Text PDFAmyloid Protein Precursor gene duplication is a rare cause of early-onset Alzheimer's disease that can be associated with Cerebral Amyloid Angiopathy. This condition predisposes cerebrovascular events, specifically, intracerebral hemorrhagic stroke. This report describes a case of first-time intracerebral hemorrhage in a patient with APP gene duplication during SARS-CoV-2 infection, a typically pro-thrombotic and pro-inflammatory condition, as a possible trigger for this condition.
View Article and Find Full Text PDF