Task-related brain activity in upper limb dystonia revealed by simultaneous fNIRS and EEG.

Objective: The aim of this study was to explore differences in brain activity and connectivity using simultaneous electroencephalography and near-infrared spectroscopy in patients with focal dystonia during handwriting and finger-tapping tasks.

Methods: Patients with idiopathic right upper limb focal dystonia and controls were assessed by simultaneous near-infrared spectroscopy and electroencephalography during the writing and finger-tapping tasks in terms of the mu-alpha, mu-beta, beta and low gamma power and effective connectivity, as well as relative changes in oxyhemoglobin (oxy-Hb) and deoxyhemoglobin using a channel-wise approach with a mixed-effect model.

Results: Patients exhibited higher oxy-Hb levels in the right and left motor cortex and supplementary motor area during writing, but lower oxy-Hb levels in the left sensorimotor and bilateral somatosensory area during finger-tapping compared to controls.

Omics profile of iPSC-derived astrocytes from Progressive Supranuclear Palsy (PSP) patients.

Introduction: Progressive Supranuclear Palsy (PSP) is a neurodegenerative tauopathy and, to date, the pathophysiological mechanisms in PSP that lead to Tau hyperphosphorylation and neurodegeneration are not clear. In some brain areas, Tau pathology in glial cells appears to precede Tau aggregation in neurons. The development of a model using astrocyte cell lines derived from patients has the potential to identify molecules and pathways that contribute to early events of neurodegeneration.

Diagnosis of autism spectrum disorder based on functional brain networks and machine learning.

Autism is a multifaceted neurodevelopmental condition whose accurate diagnosis may be challenging because the associated symptoms and severity vary considerably. The wrong diagnosis can affect families and the educational system, raising the risk of depression, eating disorders, and self-harm. Recently, many works have proposed new methods for the diagnosis of autism based on machine learning and brain data.

DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.

Background: DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants. We aim to report on the phenomenology of these cases suffering from DYT-TUBB4A and to perform a comprehensive review of the clinical presentation and treatment responses of all DYT-TUBB4A cases reported in the literature.

High prevalence of self-reported non-motor symptoms and lack of correlation with motor severity in adult patients with idiopathic isolated dystonia.

Background: Although abnormal movements and postures are the hallmark of dystonia, non-motor symptoms (NMS) are common and negatively affect quality of life.

Objectives: The aim of this study was to screen dystonia patients for NMS and analyze their association with clinical parameters, including motor disability.

Methods: Adult patients with idiopathic isolated dystonia were interviewed and examined.

Motor Cortex Activation During Writing in Focal Upper-Limb Dystonia: An fNIRS Study.

Background: Functional imaging studies have associated dystonia with abnormal activation in motor and sensory brain regions. Commonly used techniques such as functional magnetic resonance imaging impose physical constraints, limiting the experimental paradigms. Functional near-infrared spectroscopy (fNIRS) offers a new noninvasive possibility for investigating cortical areas and the neural correlates of complex motor behaviors in unconstrained settings.

Task-related brain activity and functional connectivity in upper limb dystonia: a functional magnetic resonance imaging (fMRI) and functional near-infrared spectroscopy (fNIRS) study.

Dystonia is a dynamic and complex disorder. Real-time analysis of brain activity during motor tasks may increase our knowledge on its pathophysiology. Functional near-infrared spectroscopy (fNIRS) is a noninvasive method that enables the measurement of cortical hemodynamic activity in unconstrained environments.

Brain connectivity in patients with dystonia during motor tasks.

Objective: This study aims to investigate alterations of brain connectivity using multivariate electroencephalographic data to provide new insights of the brain connectivity dynamics of dystonia.

Approach: We recorded electroencephalography (EEG) of patients with right upper limb idiopathic focal dystonia and paired controls during resting state, writing-from-memory, and finger-tapping tasks. We applied power spectrum analyses considering the mu, beta and gamma rhythms of the motor cortex and analyzed brain connectivity networks and microstates (MS).

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

Objective: To report 4 novel mutations leading to laryngeal and cervical dystonia with frequent generalization.

Methods: We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description.

Results: Four novel variants in the gene have been identified: D295N, R46M, Q424H, and R121W.

Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.

AMP-activated protein kinase (AMPK) regulates many different metabolic pathways in eukaryote cells including mitochondria biogenesis and energy homeostasis. Here we identify a patient with hypotonia, weakness, delayed milestones and neurological impairment since birth harbouring a novel homozygous mutation in the AMPK catalytic α-subunit 1, encoded by the PRKAA1 gene. The homozygous mutation p.

The prevalence of PRKRA mutations in idiopathic dystonia.

Introduction: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia.

Neuropsychological and clinical heterogeneity of cognitive impairment in patients with multiple system atrophy.

Objective: We evaluated neuropsychological tests to compare cognitive impairment between two types of multiple system atrophy: predominant parkinsonism (MSA-P) and predominant cerebellar ataxia (MSA-C).

Patients And Methods: This cross-sectional study included 14 patients diagnosed with MSA: four with MSA-C and ten with MSA-P. Presence of motor symptoms was determined by using the Unified Rating MSA Scale (URMSAS).

Clinical and Epidemiological Correlates of Task-Specific Dystonia in a Large Cohort of Brazilian Music Players.

Musician's dystonia is a task-specific dystonia (TSD) worldwide disabling disorder, and most of the affected individuals may have severe difficulty to play their instrument. Many professional music players may have to quit working as a player. The objective of the present study was to evaluate the clinical characteristics and frequency of TSD in Brazilian music players and to promote awareness of this condition among musicians.

Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.

GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing.

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients.

Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia characterized by a combination of neurological involvement, cardiomyopathy, and skeletal and glucose metabolism disturbances. FRDA is caused by mutations in FXN gene that results in reduction of mRNA and protein levels of frataxin. Previous microarray and real-time quantitative PCR (qPCR) studies showed that the downregulation of FXN is associated with a complex gene expression profile.

Milestones in Friedreich ataxia: more than a century and still learning.

Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia worldwide. This review highlights the main clinical features, pathophysiological mechanisms, and therapeutic approaches for FRDA patients. The disease is characterized by a combination of neurological involvement (ataxia and neuropathy), cardiomyopathy, skeletal abnormalities, and glucose metabolism disturbances.

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

THAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been determined. The aim of this study was to investigate the prevalence of THAP1 variants in Brazilian patients with idiopathic dystonia and to describe their clinical characteristics including non-motor symptoms. One hundred and ten unrelated patients with non-TOR1A (DYT1) idiopathic isolated dystonia and family members were evaluated and screened for genetic variants.

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.

Evaluation of patients with Clinically Unclear Parkinsonian Syndromes submitted to brain SPECT imaging using the technetium-99m labeled tracer TRODAT-1.

Despite its relatively high prevalence Parkinson's Disease (PD) is still misdiagnosed in approximately 25% of cases. In this study our aim was to evaluate patients with Clinically Unclear Parkinsonian Syndromes (CUPS) submitted to brain SPECT imaging using the technetium-99m labeled Dopamine Transporter (DAT) tracer TRODAT-1. We recruited 15 subjects with CUPS and matched them with 13 patients with probable PD and 13 healthy control subjects (HCS).

Degenerative parkinsonism in patients with psychogenic parkinsonism: A dopamine transporter imaging study.

Objectives: To evaluate patients with "clinically established" psychogenic parkinsonism (PsyP) using single-photon emission computer tomography (SPECT) with the technetium-99m labeled tracer TRODAT-1, a dopamine transporter (DAT) ligand, and investigate whether these patients have an underlying degenerative parkinsonism.

Patients And Methods: Five patients with PsyP were assessed using demographic data, standard clinical scales for Parkinson's Disease (PD), and a neuropsychiatric interview. DAT imaging using SPECT with TRODAT-1 was performed, and values for caudate/putamen DAT binding potentials (BP) registered.