Initial outcomes and safety of MR guided focused ultrasound (MRgFUS) thalamotomy for essential tremor of the first FUS Medical Unit in Portugal.

Background:  The magnetic resonance imaging-guided focused ultrasound (MRgFUS) has emerged as an innovative treatment for patients with medically refractory essential tremor (ET).

Objective:  This retrospective observational study aims to present the results of the first five patients with medically refractory ET who underwent MRgFUS treatment at this pioneering medical unit in Portugal.

Methods:  We conducted a retrospective chart review for the first five patients who underwent unilateral MRgFUS thalamotomy of the ventral intermediate (Vim) nucleus to treat medically refractory ET at our medical unit.

Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease.

Introduction: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients.

DRD3 Predicts Cognitive Impairment and Anxiety in Parkinson's Disease: Susceptibility and Protective Effects.

Background: A possible genetic contribution of dopamine D3 receptor (DRD3) to cognitive impairment in Parkinson's disease (PD) has yet to be investigated.

Objective: To explore the effects of rs6280 (Ser9Gly) genotype on PD patients' cognitive performance and to clarify possible interactions with psychopathology.

Methods: Two hundred and fifty-three consecutive PD patients underwent neurological and neuropsychological evaluations, which included: Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn & Yahr scale (H&Y), Dementia Rating Scale-2 (DRS-2), and Hospital Anxiety and Depression Scale (HADS).

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.

Peripheral neuropathy in Parkinson's disease: prevalence and functional impact on gait and balance.

Peripheral neuropathy is a common problem in patients with Parkinson's disease. Peripheral neuropathy's prevalence in Parkinson's disease varies between 4.8-55%, compared with 9% in the general population.

Comparison of Laboratory and Daily-Life Gait Speed Assessment during ON and OFF States in Parkinson's Disease.

Accurate assessment of Parkinson's disease (PD) ON and OFF states in the usual environment is essential for tailoring optimal treatments. Wearables facilitate measurements of gait in novel and unsupervised environments; however, differences between unsupervised and in-laboratory measures have been reported in PD. We aimed to investigate whether unsupervised gait speed discriminates medication states and which supervised tests most accurately represent home performance.

Advantages of an Automated Method Compared With Manual Methods for the Quantification of Intraepidermal Nerve Fiber in Skin Biopsy.

Intraepidermal nerve fiber density (IENFD) measurements in skin biopsy are performed manually by 1-3 operators. To improve diagnostic accuracy and applicability in clinical practice, we developed an automated method for fast IENFD determination with low operator-dependency. Sixty skin biopsy specimens were stained with the axonal marker PGP9.

Gait speed in clinical and daily living assessments in Parkinson's disease patients: performance versus capacity.

Gait speed often referred as the sixth vital sign is the most powerful biomarker of mobility. While a clinical setting allows the estimation of gait speed under controlled conditions that present functional capacity, gait speed in real-life conditions provides the actual performance of the patient. The goal of this study was to investigate objectively under what conditions during daily activities, patients perform as well as or better than in the clinic.

Wearable Health Technology to Quantify the Functional Impact of Peripheral Neuropathy on Mobility in Parkinson's Disease: A Systematic Review.

The occurrence of peripheral neuropathy (PNP) is often observed in Parkinson's disease (PD) patients with a prevalence up to 55%, leading to more prominent functional deficits. Motor assessment with mobile health technologies allows high sensitivity and accuracy and is widely adopted in PD, but scarcely used for PNP assessments. This review provides a comprehensive overview of the methodologies and the most relevant features to investigate PNP and PD motor deficits with wearables.

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset, multisystem ataxia that remained only clinically defined, until recently, when the discovery of biallelic repeat expansion in the RFC1 gene allowed the genetic link. We describe the first Portuguese familial CANVAS harboring the pathogenic RFC1 expansion. Detail clinical features and course of four affected members are provided.

Past appendectomy may be related to early cognitive dysfunction in Parkinson's disease.

Introduction: The vermiform appendix is a potential site of initiation of Parkinson's disease (PD) pathology. We hypothesized that the appendectomy earlier in life may alter the clinical expression of PD.

Objective: To explore the effects of appendectomy prior to onset of PD motor symptoms on patients' symptoms, in particular on cognitive dysfunction.

Motor, cognitive and mobility deficits in 1000 geriatric patients: protocol of a quantitative observational study before and after routine clinical geriatric treatment - the ComOn-study.

Background: Motor and cognitive deficits and consequently mobility problems are common in geriatric patients. The currently available methods for diagnosis and for the evaluation of treatment in this vulnerable cohort are limited. The aims of the ComOn (COgnitive and Motor interactions in the Older populatioN) study are (i) to define quantitative markers with clinical relevance for motor and cognitive deficits, (ii) to investigate the interaction between both motor and cognitive deficits and (iii) to assess health status as well as treatment outcome of 1000 geriatric inpatients in hospitals of Kiel (Germany), Brescia (Italy), Porto (Portugal), Curitiba (Brazil) and Bochum (Germany).

Sleep disturbances in Parkinson's disease are associated with central parkinsonian pain.

Introduction: Sleep disturbances and pain are common non-motor symptoms in Parkinson's disease (PD). This study aimed to explore the association between these two symptoms in a cohort of patients with PD.

Materials And Methods: The Parkinson's Disease Sleep Scale (PDSS-2) was used to identify sleep disturbances in a series of 229 PD patients.

Unveiling the relationship between central parkinsonian pain and motor symptoms in Parkinson's disease.

Background: Pain in Parkinson's disease (PD) is a common and heterogeneous non-motor symptom. Although the characteristics and predictors of pain in general and of central pain in particular are still largely unknown.

Methods: A semi-structured interview, the Brief Pain Inventory and the Pain Disability Index were used to identify and characterize pain in a consecutive series of 292 PD patients.

Clinical features of hypertrophic pachymeningitis in a center survey.

Background: Hypertrophic pachymeningitis (HP) is characterized by cranial and/or spinal thickening of the dura mater with or without associated inflammation. Neuroimaging studies reveal dura mater thickening and focal or diffuse contrast enhancement. It is described in association with trauma, infections, tumors, autoimmune/inflammatory diseases, and cerebrospinal fluid hypotension syndrome, with some cases remaining idiopathic.

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database.

Statistical Models of Parkinson's Disease Progression: Predictive Validity in a 3-Year Follow-up.

Background: The rate of Parkinson's disease (PD) progression varies widely between patients. Current knowledge does not allow to accurately predict the evolution of symptoms in a given individual over time.

Objectives: To develop regression-based models of PD progression and to explore its predictive value in a three-year follow-up.

[Hospital Mortality in Parkinson's Disease: Retrospective Analysis in a Portuguese Tertiary Centre].

Introduction: Parkinson's disease is associated with high hospital mortality. Male gender, late age at onset, higher disability and the coexistence of cognitive impairment or depression have been suggested to be risk factors of death. Pneumonia and cardiovascular diseases are the leading causes of death.

Appendectomy may delay Parkinson's disease Onset.

Background: Alpha-synuclein (α-Syn) is particularly abundant in the vermiform appendix, which makes this structure an anatomical candidate for the initiation of Parkinson's disease (PD) pathology. We hypothesized that history of appendectomy might affect PD clinical onset.

Methods: A total of 295 PD patients enrolled in a comprehensive observational study were asked about past history of appendectomy.

Abnormal Olfaction in Parkinson's Disease Is Related to Faster Disease Progression.

Introduction: A possible association between olfactory dysfunction and Parkinson's disease (PD) severity has been a topic of contention for the past 40 years. Conflicting reports may be partially explained by procedural differences in olfactory assessment and motor symptom evaluation.

Methods: One hundred and sixty-six nondemented PD patients performed the Brief-Smell Identification Test and test scores below the estimated 20th percentile as a function of sex, age, and education (i.