Assisted technology in Parkinson's disease gait: what's up?

Background:  Gait disturbances are prevalent and debilitating symptoms, diminishing mobility and quality of life for Parkinson's disease (PD) individuals. While traditional treatments offer partial relief, there is a growing interest in alternative interventions to address this challenge. Recently, a remarkable surge in assisted technology (AT) development was witnessed to aid individuals with PD.

Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3.

Background: Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL).

Objective: To evaluate the impact of a speech therapy rehabilitation program on the QOL of patients with SCA3.

Methods: All participants were randomly assigned to two groups, an intervention group receiving speech therapy (STG) and a control group (CG).

How I treat Parkinson's disease.

Background: Parkinson's disease (PD) is a complex neurodegenerative condition. Treatment strategies through all stages of disease progression could affect quality of life and influence the development of future complications, making it crucial for the clinician to be on top of the literature.

Objective: This paper reviews the current treatment of PD, from early to advanced stages.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms.

The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.

Rehabilitation in patients with cerebellar ataxias.

Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA). Usually, the genetic and neurodegenerative forms of cerebellar ataxias present a progressive and inevitable worsening of the clinical picture so that rehabilitation treatment is fundamental. Rehabilitation treatment includes physical therapy, respiratory therapy, speech, voice and swallowing therapy, occupational therapy, and new technologies, such as the use of exergames.

Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to Mutation.

Objective: To describe the postmortem neuropathologic findings of a patient with Kufor Rakeb syndrome (KRS) due to mutation. KRS is characterized by juvenile-onset levodopa-responsive parkinsonism associated with pyramidal signs, supranuclear gaze palsy, and cognitive impairment.

Methods: A detailed neuropathologic analysis of the brain was performed.

Effects of resistance training on postural control in Parkinson's disease: a randomized controlled trial.

Background: Postural instability affects Parkinson's disease (PD) patients' postural control right from the early stages of the disease. The benefits of resistance training (RT) for balance and functional capacity have been described in the literature, but few studies have been conducted showing its effects on PD patients' postural control.

Objective: To investigate the effects of a three-month RT intervention on static posturography (SP) measurements and clinical functional balance assessment among PD patients.

Generation of 5 hiPSC lines derived from three unrelated idiopathic Parkinson disease patients and two unrelated healthy control individuals.

We describe generation of human induced pluripotent stem cell (hiPSC) lines of three unrelated idiopathic late onset Parkinson disease patients and two healthy controls above 60 years of age without neurological diseases nor Ashkenazi ancestry. Human iPSC were derived from peripheral blood-erythroblasts using integration free episomal plasmids carrying four reprogramming factors OCT4, SOX2, c-MYC, KLF4 and BCL-XL. The hiPSC lines were characterized according to established criteria.

Is virtual reality beneficial for dual-task gait training in patients with Parkinson's disease? A systematic review.

Unlabelled: This systematic review examined the evidence about the effects of virtual reality (VR) on dual-task gait training in Parkinson's disease (PD).

Methods: this study (PROSPERO registration CRD42019114736) aimed to answer the question: "Is VR beneficial for dual-task gait training in patients with PD?" We searched for studies from 2008 to 2018 on Medline/PubMed and Web of Science/Web of knowledge databases. The keywords were Parkinson AND gait training AND virtual reality OR Parkinson AND gait training AND game.

Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations.

We describe the generation and characterization of hiPSC lines of one type 1-Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients heterozygous for GBA mutations. Human iPSCs were derived from lymphocytes reprogrammed with Sendai virus carrying the reprogramming factors OCT3/4, SOX2, KLF4 and MYC. The hiPSC lines were characterized according to established criteria, and retained the original GBA mutations found in the respective patients.

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese.

Objective: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese.

Methods: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment.

Relationship Between Posturography, Clinical Balance and Executive Function in Parkinson´s Disease.

This study aimed to evaluate the relationship between posturography, clinical balance, and executive function tests in Parkinson´s disease (PD). Seventy-one people participated in the study. Static posturography evaluated the center of pressure fluctuations in quiet standing and dynamic posturography assessed sit-to-stand, tandem walk, and step over an obstacle.

Defining spasticity: a new approach considering current movement disorders terminology and botulinum toxin therapy.

Spasticity is a symptom occurring in many neurological conditions including stroke, multiple sclerosis, hypoxic brain damage, traumatic brain injury, tumours and heredodegenerative diseases. It affects large numbers of patients and may cause major disability. So far, spasticity has merely been described as part of the upper motor neurone syndrome or defined in a narrowed neurophysiological sense.

Cognitive or Cognitive-Motor Executive Function Tasks? Evaluating Verbal Fluency Measures in People with Parkinson's Disease.

Introduction: Executive function deficits are observed in people with Parkinson's disease (PD) from early stages and have great impact on daily living activities. Verbal fluency and oral diadochokinesia involve phonarticulatory coordination, response inhibition, and phonological processing and may also be affected in people with PD. This study aimed to describe the performance of PD patients and an age- and education-matched control group on executive function, verbal fluency, and oral diadochokinesia tests and to investigate possible relationships between them.

Gait, posture and cognition in Parkinson's disease.

Gait disorders and postural instability are the leading causes of falls and disability in Parkinson's disease (PD). Cognition plays an important role in postural control and may interfere with gait and posture assessment and treatment. It is important to recognize gait, posture and balance dysfunctions by choosing proper assessment tools for PD.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome.

Brief considerations on the dispensation profile of the botulinum toxin type A by the Brazilian Unified Health System for treatment of dystonias: Datasus data.

Botulinum toxin injections are the most effective approach for the treatment of focal dystonia. Despite growing demand and clinical indications over the years, there are few reports or publications of its use and benefit to patients seen at the Sistema Único de Saúde - SUS (Unified Health System). Analyzing the Datasus data (Unified Health System Information Department of Brazilian Ministry of Health), it was noticed that in Brazil the percentage of dystonic patient benefited from this procedure is still low.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Background: ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objective of this study was to describe a family with 2 siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations.

Development of a new haptic perception instrument: a pilot study.

Objective: Hand sensory tests do not consider distinct physiological receptors, nor detect normal range variations concerning developmental or pathological changes. We developed an instrument with a set of tests with timing and scoring for assessing haptic perception, which is the interaction between sensory and motor systems, in surfaces exploration, by moving hands.

Method: Firstly, group meetings were set for test/manual conception and materials testing.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Objective: DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD).

Methods: The DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD.

The competition with a concurrent cognitive task affects posturographic measures in patients with Parkinson disease.

Objectives: To estimate the impact of a sensory-motor- cognitive task on postural balance, in Parkinson disease patients (Hoehn and Yahr 2-3) and to investigate possible relationships between posturography and functional balance clinical scales.

Method: Parkinson disease patients (n = 40) and healthy controls (n = 27) were evaluated with fluency tests, Berg Balance scale, Mini Best test and static posturography on the conditions eyes open, eyes closed and dual-task (simultaneous balance and fluency tasks).

Results: Posturographic data showed that Parkinson disease patients performed worse than controls in all evaluations.

Specificity and sensibility of 9-Itens Wearing-off Questionnaire in Brazilian Parkinson disease patient sample.

Objective: (1) To evaluate whether the Nine Items Questionnaire (WOQ-9) for the detection of wearing-off (WO) in Parkinson Disease (PD), by means of its screening ability, is a helpful tool to assist neurologists in diagnosing WO; (2) To determine the sensitivity and the specificity of a free Brazilian Portuguese translation of WOQ-9.

Method: A sample obtained by convenience included 60 patients. The WOQ-9 was answered by the patients themselves before their routine consultations.

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease.

Unlabelled: Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD.