A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in , , , and Genes.

Our aim was to analyze the phenotypic-genetic correlations in a patient diagnosed with early onset corticobasal syndrome with progressive non-fluent aphasia (CBS-PNFA), characterized by predominant apraxia of speech, accompanied by prominent right-sided upper-limb limb-kinetic apraxia, alien limb phenomenon, synkinesis, myoclonus, mild cortical sensory loss, and right-sided hemispatial neglect. Whole-exome sequencing (WES) identified rare single heterozygous variants in (c.3207C>A), (c.

Morbidity and severity of COVID-19 in patients with Parkinson's disease treated with amantadine - A multicenter, retrospective, observational study.

Background: After more than 2 years of the pandemic, effective treatment for COVID-19 is still under research. In recent months, publications hypothesized amantadine's potential beneficial effect on SARS-CoV-2 infection.

Objective: To compare the groups of Parkinson's Disease (PD) patients who were administered amantadine chronically and those who did not take this medication in the context of the incidence and severity of COVID-19 infection.

Worldwide Survey of Clinician Practice on use of Adjunctive Therapies Following Botulinum Toxin Injection for Spasticity.

Objective: Non-pharmacological adjunctive therapies can be used alongside botulinum toxin injection to enhance its efficacy. The objective of this global study was to determine the current practice and perception among clinicians of the use of adjunctive therapies after botulinum toxin injections for the treatment of limb spasticity.

Methods: A questionnaire with 22 questions on clinical practice demographics, self-reported use and clinician opinion on barriers to the use of complementary therapies, and priorities for future research was translated into 7 languages and distributed worldwide through national and international professional associations concerning (neuro)rehabilitation.

The Impact of Subthalamic Deep Brain Stimulation on Restless Legs Syndrome in Parkinson's Disease.

Introduction: The study aimed at evaluating the effect of subthalamic deep brain stimulation (DBS-STN) on restless legs syndrome (RLS) in Parkinson's disease (PD) patients.

Materials And Methods: We assessed the presence of RLS before and 6 and 12 months after surgery in 36 patients. Differences between patients with RLS, without RLS, and with remission of RLS in terms of sleep measures (interview and validated questionnaires) and nonmotor symptoms (NMS).

Cognitive and behavioral profile of Perry syndrome in two families.

Objective: Perry syndrome (PS) is a rare neurodegenerative disorder with autosomal dominant inheritance caused by point mutations in DCTN1 and characterized by parkinsonism, hypoventilation, weight loss, and psychiatric symptoms. Even though behavioral manifestation is a main feature of PS, detailed neuropsychological assessment was not performed in this cohort. In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented.

Radiation therapy in patients with implanted deep brain stimulation.

Background: As deep brain stimulation (DBS) and radiation therapy (RT) have become established treatments for movement disorders and malignancies respectively, patients being treated with both simultaneously are becoming more frequent.

Objectives: Literature regarding the safety of RT in patients with implanted DBS is scarce, and there are no clear guidelines on how to manage them.

Methods: We present a follow-up of two Parkinson's Disease (PD) patients with DBS undergoing RT in the context of previous literature.

Prevalence and predictors of post-stroke spasticity and its impact on daily living and quality of life.

Background And Aims: The present study aimed to assess the frequency of spasticity in a single-centre cohort of stroke patients in a one-year follow-up, its predictors, and its impact on the activities of daily living (ADL) and health-related quality of life (HRQoL).

Material And Methods: A group of 121 consecutive patients with hemiparesis (aged 73 ± 11 years) was selected for further observation, out of 381 Stroke Department patients during one year. At three follow-up assessments three, six and 12 months after stroke, muscle tone and muscle weakness were rated using Modified Ashworth Scale (MAS) and Medical Research Council (MRC); Activities of Daily Living (ADL) and Health Related Quality of Life (HRQoL) were evaluated using the Barthel Index (BI), Modified Rankin Scale (mRS) and an SF-36 questionnaire.

The impact of subthalamic deep brain stimulation on sleep and other non-motor symptoms in Parkinson's disease.

Introduction: The non-motor symptoms have a major impact on quality of life in patients with Parkinson Disease (PD). We present results of the study on the impact of subthalamic deep brain stimulation (DBS-STN) on sleep and other non-motor symptoms in PD patients.

Materials And Methods: Thirty-six patients with advanced PD were included into the study.

The impact of subthalamic deep brain stimulation on polysomnographic sleep pattern in patients with Parkinson's disease - Preliminary report.

Aim Of The Study: We present the preliminary results of the study focused on the impact of subthalamic deep brain stimulation (DBS-STN) on sleep and other non-motor symptoms (NMS).

Materials And Methods: Ten patients with advanced PD, underwent two-night polysomnography (PSG) mean 1.1 week before surgery and 6.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias.

Polyneuropathy in levodopa-treated Parkinson's patients.

Recently published studies show that the prevalence of polyneuropathy (PNP) is higher in patients with Parkinson's disease (PD) than in age-matched controls. Its pathogenesis, however is a matter of controversy. The major hypothesis is the toxicity of high concentrations of homocysteine (Hcy) possibly related to levodopa (LD) therapy.

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Objective: To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes.

Methods: We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.

Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.

Background: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported.

Objectives: We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years.

The role of neuroimaging in the diagnosis of the atypical parkinsonian syndromes in clinical practice.

Atypical parkinsonian disorders (APD) are a heterogenous group of neurodegenerative diseases such as: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortico-basal degeneration (CBD) and dementia with Lewy bodies (DLB). In all of them core symptoms of parkinsonian syndrome are accompanied by many additional clinical features not typical for idiopathic Parkinson's disease (PD) like rapid progression, gaze palsy, apraxia, ataxia, early cognitive decline, dysautonomia and usually poor response to levodopa therapy. In the absence of reliably validated biomarkers the diagnosis is still challenging and mainly based on clinical criteria.

Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

Pharmacokinetics of levodopa in patients with Parkinson disease and motor fluctuations depending on the presence of Helicobacter pylori infection.

Background: According to recent investigations, the eradication of Helicobacter pylori (H. pylori) may influence levodopa (LD) pharmacokinetics (PK) and improve the motor function of infected patients with Parkinson disease (PD). The aim of this study was to compare PK of LD and its metabolite 3-O-methyldopa (3-OMD), between H.

Self-awareness of executive dysfunction in Huntington's disease: comparison with Parkinson's disease and cervical dystonia.

This study assessed self-awareness of executive deficits in patients with Huntington's disease (HD) in comparison to patients with Parkinson's disease (PD) and with cervical dystonia (CD). Eighty-nine patient-proxy pairs participated in the study (23 with HD, 25 with advanced PD, 21 with mild PD and 20 with CD). Executive function was assessed with the Stroop test and the Dysexecutive Questionnaire.

Poor insight into memory impairment in patients with Huntington disease.

Background And Purpose: Patients suffering from Huntington disease (HD) have been shown to present with poor self-awareness of a variety of symptoms. The study aimed to assess the self-awareness of memory impairment in HD in comparison to advanced Parkinson disease (PD), mild PD and cervical dystonia.

Material And Methods: Self-awareness was tested in 23 patients with HD by comparing patient and caregiver ratings in reference to clinical control groups (25 patients with advanced PD, 21 with mild PD and 20 with cervical dystonia).

Assessing self-awareness of dyskinesias in Parkinson's disease through movie materials.

The aim of our study was to determine self-awareness of dyskinesias and other core motor symptoms in Parkinson's disease (PD) through the use of movie presentations. A scale based on 10 movies (five depicting dyskinesias and five showing core symptoms) and the Self-Assessment Parkinson's Disease Disability Scale were administered to 21 patients (all with a Mini-Mental State Examination - MMSE score ≥ 25). Neurological assessment included the Unified Parkinson's Disease Rating Scale and the Hoehn-Yahr and Schwab-England scales.

Self-awareness of motor dysfunction in patients with Huntington's disease in comparison to Parkinson's disease and cervical dystonia.

Individuals suffering from Huntington's disease (HD) have been shown to present with poor self-awareness of a variety of symptoms. The aim of this study was to better assess the self-awareness of motor symptoms and activities of daily living (ADL) impairment in HD, in comparison to Parkinson's disease (PD) and cervical dystonia (CD). In particular, the anosognosia/anosodiaphoria of involuntary movements has been investigated.

Prevalence of spasticity following stroke and its impact on quality of life with emphasis on disability in activities of daily living. Systematic review.

Spasticity is characterized by a velocity-dependent increase in muscle tone related to disturbed sensory-motor control of muscle tone following upper motor neuron damage. Spasticity and its clinical implications are still poorly described. There is no consensus concerning the number of patients developing spasticity or the relationship between spasticity and motor disabilities after stroke.

The clinical and neuroimaging studies in Holmes tremor.

Aim: Holmes tremor (HT) is a combination of rest, postural and action tremor. A parallel dysfunction of cerebello-thalamic and nigrostriatal pathways seems necessary to produce this kind of tremor. We present the clinical and neuroimaging study verifying that hypothesis.