Cross-cultural adaptation and measurement properties of the Brazilian Portuguese version of the Parkinson's disease sleep scale-2 (PDSS-2).

Objectives: The Parkinson's Disease Sleep Scale-2 (PDSS-2) is an updated tool designed to identify specific sleep disturbances in individuals with Parkinson's disease (PD). However, for its application in Brazil, a process of cross-cultural adaptation and validation of its measurement properties is required.

Methods: This methodological study adapted the PDSS-2 to Brazilian Portuguese (PDSS-2-Br) and assessed its measurement properties, including internal consistency, test-retest reliability, measurement error, construct validity, and interpretability.

Validation of the Portuguese MDS-UPDRS: Challenges to Obtain a Scale Applicable to Different Linguistic Cultures.

Background: The MDS-UPDRS has been available in English since 2008, showing satisfactory clinimetric results and being proposed as the new official benchmark scale for Parkinson's disease (PD), being cited as a core instrument for PD in the National Institutes of Neurological Disorders and Stroke Common Data Elements program. For this reason, the MDS created guidelines for development of MDS-UPDRS official, clinimetrically validated translations.

Objective: This study presents the formal process used to obtain the officially approved Portuguese version of the MDS-UPDRS.

Language impairment in sporadic and familial (type 8) amyotrophic lateral sclerosis: A comparative study.

Introduction/aims: Language is frequently affected in patients with sporadic amyotrophic lateral sclerosis (sALS), with reduced performance in naming, syntactic comprehension, grammatical expression, and orthographic processing. However, the language profile of patients with familial type 8 ALS (ALS8), linked to p.P56S VAPB mutation, remains unclear.

Hearts and Minds: Emotion Recognition and Mentalizing in Parkinson's Disease and Progressive Supranuclear Palsy.

Objective: There are scarce data comparing Parkinson's disease (PD) and Progressive Supranuclear Palsy (PSP) in social cognition (SC). We aimed to compare patients with PSP and PD in SC.

Methods: We included three groups: PD (n = 18), PSP (n = 20) and controls (n = 23).

Handicap as a Measure of Perceived-Health Status in Parkinson's Disease.

Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD).

Objective: To characterize the handicap of a broader sample of patients.

Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L.

A comparative study of cognitive and behavioral profiles between sporadic and type 8 amyotrophic lateral sclerosis.

Introduction/aims: Amyotrophic lateral sclerosis (ALS) type 8 (ALS8) is caused by VAPB gene mutations. The differences between neuropsychological and behavioral profiles of patients with sporadic ALS (sALS) and those with ALS8 are unclear. We aimed to compare cognitive performance and behavioral aspects between sALS and ALS8 patients.

Development and Validation of the Dystonia-Pain Classification System: A Multicenter Study.

Background: Dystonia is associated with disabling nonmotor symptoms like chronic pain (CP), which is prevalent in dystonia and significantly impacts the quality of life (QoL). There is no validated tool for assessing CP in dystonia, which substantially hampers pain management.

Objective: The aim was to develop a CP classification and scoring system for dystonia.

I'm looking through you: Mentalizing in frontotemporal dementia and progressive supranuclear palsy.

Mentalizing and emotion recognition are impaired in behavioral variant frontotemporal dementia (bvFTD). It is not clear whether these abilities are also disturbed in other conditions with prominent frontal lobe involvement, such as progressive supranuclear palsy (PSP). Our aim was to investigate social cognition (facial emotion recognition, recognition of social norms violation and mentalizing) in bvFTD and PSP.

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.

Selective visuoconstructional impairment following mild COVID-19 with inflammatory and neuroimaging correlation findings.

People recovered from COVID-19 may still present complications including respiratory and neurological sequelae. In other viral infections, cognitive impairment occurs due to brain damage or dysfunction caused by vascular lesions and inflammatory processes. Persistent cognitive impairment compromises daily activities and psychosocial adaptation.

Episodic memory in progressive supranuclear palsy: a neuropsychological and neuroimaging study.

Background: Episodic memory impairment may occur in progressive supranuclear palsy (PSP). However, it remains uncertain whether this is due to executive dysfunction or to the involvement of brain areas responsible for memory.

Objectives: To investigate the specific brain regions underlying episodic memory impairment in PSP.

DYT- Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.

DYT- (dystonia 16 or DYT-) is caused by mutations in the gene that encodes PACT, the protein activator of interferon (IFN)-induced double-stranded (ds) RNA-activated protein kinase (PKR). PACT participates in several cellular pathways, of which its role as a PKR activator protein during integrated stress response (ISR) is the best characterized. Previously, we have established that the DYT- mutations cause enhanced activation of PKR during ISR to sensitize DYT- cells to apoptosis.

Do Patients with Progressive Supranuclear Palsy Have Episodic Memory Impairment? A Systematic Review.

Background: Progressive supranuclear palsy (PSP) is the most common atypical parkinsonism and has executive dysfunction as a core feature. The magnitude of episodic memory disturbance in PSP is yet to be clarified.

Objectives: To investigate how impaired is episodic memory in PSP compared to healthy controls and other neuropsychiatric disorders.

Structural brain and spinal cord damage in symptomatic and pre-symptomatic VAPB-related ALS.

Introduction: The VAPB gene is associated with fALS (fALS 8). This disease presents a variable phenotype and no study sought to characterize its neuroanatomical abnormalities until now. This study aims to evaluate structural brain and spinal cord abnormalities in symptomatic and pre-symptomatic VAPB-related ALS.

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Background: Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and within-group variability.

Objectives: Comprehensively analyzed individual genotype, phenotype, treatment response, and biochemistry information.

Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.

Background: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials.

Objective: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil.

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

Hereditary sensory neuropathies (HSN) are a group of rare neurological disorders with heterogeneous clinical and genetic characteristics. Although at least 17 different genes have already been associated with HSN, the epidemiology of the disorder in Brazil is still unknown. Performing whole genome sequencing (WGS) in 23 unrelated Brazilian families diagnosed with HSN, we detected pathogenic variants in ATL3, SPTLC2, and SCN9A in 12 patients belonging to five unrelated families.

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

This comprehensive MDSGene review is devoted to 7 genes - TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA - mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed.

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.

Amyotrophic lateral sclerosis type 8 is not a pure motor disease: evidence from a neuropsychological and behavioural study.

Objective: Amyotrophic lateral sclerosis type 8 (ALS8) is a familial form of motor neuron disease, with predominance of lower motor neuron degeneration, and is caused by mutation of the vesicle-associated membrane protein-associated protein B (VAPB). We aimed to compare the cognitive profile of patients with ALS8 and healthy controls (HC), and to screen for behavioural features in ALS8 patients.

Methods: The sample was composed of ALS8 patients (n = 22; 14 men; median age 48 years old; median disease duration 6.