Ataxias in Brazil: 17 years of experience in an ataxia center.

Background:  Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs).

Objective:  To report a descriptive analysis of the frequency of different forms of cerebellar ataxia evaluated over 17 years in the Ataxia Unit of Universidade Federal de São Paulo, Brazil.

Clinical Reasoning: A 24-Year-Old Man With Gait Impairment, Hearing Loss, and Recurrent Fever.

We present a case study of a 24-year-old man who reported mild balance and walking difficulties for 2 years. He had a history of recurrent fever, skin lesions, headache, and elbow pain, but most of these events resolved spontaneously. There was no significant family history.

Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.

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.

Functional ataxia in a specialized ataxia center.

Background: Functional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders.

Objectives: This paper aims to clinically characterize patients with functional ataxia.

Methods: Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo circa 2008 to 2022.

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.

Background: Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative.

Ischaemic lumbosacral plexopathy following aortic dissection.

A 57-year-old man was diagnosed with acute myocardial infarction and Stanford type A aortic dissection that had spread to the common iliac arteries. He underwent a Bentall procedure for vascular repair. Immediately after surgery, he developed numbness and severe weakness in his left leg.

A journey through the history of Neurogenetics.

Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era. The term Neurogenetics came to integrate two large sciences and clinical practices: Neurology and Genetics. Neurogenetics is the emerging field that studies the correlation between genetic code and the development and function of the nervous system, including behavioral traits, personality and neurological diseases.