Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception.

Objectives: The aim of this study was to assess the perception of quality of life of patients with spinal muscular atrophy (SMA) and investigate whether there is a correlation between patients' perception and that of their carers.

Methods: Cross-sectional analytical observational study. In the first part, socioeconomic, demographic, clinical, and treatment information were collected from patients diagnosed with SMA, regardless of type, sex, or age.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Clinical characteristics and outcome of central nervous system tumors harboring NTRK gene fusions.

Purpose: TRK fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients.

Experimental Design: We conducted an international retrospective cohort study of patients with TRK fusion-driven CNS tumors.

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.

Patients with mucopolysaccharidosis type II (MPS II) can present with a severe neuronopathic phenotype or an attenuated non-neuronopathic phenotype. In the light of the recent development of drugs that cross the blood-brain barrier for treatment of neurologic MPS II symptoms, it is critical to define biomarkers that objectively differentiate phenotypes and monitor therapeutic outcomes of advanced treatments. In December 2023, a panel of Brazilian experts discussed the potential of quantifying heparan sulfate (HS) in the cerebrospinal fluid (CSF) as a biomarker for assessing neurological impairment in patients with MPS II, as well as the potential of the molecule as an objective parameter for therapeutic monitoring.

Expanding the Connection Between Cognition and Illness Intrusiveness in Multiple Sclerosis.

Background: Multiple sclerosis (MS) disease factors, such as cognitive impairment, can cause disruptions in meaningful activities, also known as illness intrusiveness. Although the association between specific objective measures of cognition and illness intrusiveness has been documented in MS, the contributions of individuals' perceptions of their cognition or whether any psychological factors can buffer the relationship have yet to be explored. This study aimed to (1) simultaneously examine objective processing speed and subjective cognition as disease factors contributing to illness intrusiveness and (2) explore whether resilience moderates the relationship between cognition and illness intrusiveness.