Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy.

Transcriptomic profiles in Parkinson's disease.

Transcriptomics in Parkinson's disease offers insights into the pathogenesis of Parkinson's disease but obtaining brain tissue has limitations. In order to bypass this issue, we profile and compare differentially expressed genes and enriched pathways (KEGG) in two peripheral tissues (blood and skin) of 12 Parkinson's disease patients and 12 healthy controls using RNA-sequencing technique and validation with RT-qPCR. Furthermore, we compare our results to previous Parkinson's disease brain tissue and blood results using the robust rank aggregation method.

Community-based genetic study of Parkinson's disease in Estonia.

Objective: To examine the genetic variability of Estonian Parkinson's disease (PD) patients using an ongoing epidemiological study in combination with a genetic analysis.

Methods: This study was a community-based genetic screening study of 189 PD patients, and 158 age- and sex-matched controls screened for potential mutations in 9 PD genes using next-generation sequencing and multiplex ligation-dependent probe amplification method. Different clinimetric scales and questionnaires were used to examine PD patients and assess clinical characteristics and severity of the disease.

Lack of Accredited Clinical Training in Movement Disorders in Europe, Egypt, and Tunisia.

Background: Little information is available on the official postgraduate and subspecialty training programs in movement disorders (MD) in Europe and North Africa.

Objective: To survey the accessible MD clinical training in these regions.

Methods: We designed a survey on clinical training in MD in different medical fields, at postgraduate and specialized levels.

Increased Serum Levels of Mesencephalic Astrocyte-Derived Neurotrophic Factor in Subjects With Parkinson's Disease.

Background: Mesencephalic astrocyte-derived neurotrophic factor (MANF) and cerebral dopamine neurotrophic factor (CDNF) promote the survival of midbrain dopamine neurons in animal models of Parkinson's disease (PD). However, little is known about endogenous concentrations of MANF and CDNF in human PD patients, and their relation to PD pathogenesis. Our main objective was to study whether circulating concentrations of MANF and CDNF differ between PD patients and controls, and if they correlate with clinical parameters.

Incidence and Mortality of Parkinson's Disease in Estonia.

Background: There is lack of data on the incidence of Parkinson's disease (PD) based on repeat studies. Mortality rates of PD in Estonia have never been studied before.

Objectives: To estimate the incidence and mortality rates of PD in -Estonia, to compare current incidence rates with those of the prior epidemiological study in Estonia, and to examine the reported causes of death of the study population.

Analysis of repetitive element expression in the blood and skin of patients with Parkinson's disease identifies differential expression of satellite elements.

Repetitive elements (RE) constitute the majority of the human genome and have a range of functions both structural and regulatory on genomic function and gene expression. RE overexpression has been observed in several neurodegenerative diseases, consistent with the observation of aberrant expression of RE posing a mutagenic threat. Despite reports that associate RE expression with PD no study has comprehensively analysed the role of these elements in the disease.

Serum Amyloid Alpha Is Downregulated in Peripheral Tissues of Parkinson's Disease Patients.

We report the changed levels of serum amyloid alpha, an immunologically active protein, in Parkinson's disease (PD) patients' peripheral tissues. We have previously shown that and (serum amyloid alpha-1,-2, genes) were among the top downregulated genes in PD patients' skin, using whole-genome RNA sequencing. In the current study, we characterized the gene and protein expression profiles of skin and blood samples from patients with confirmed PD diagnosis and age/sex matched controls.

Effect of Age on Substantia Nigra Hyper-echogenicity in Parkinson's Disease Patients and Healthy Controls.

Substantia nigra (SN) hyper-echogenicity (SN+) describes an enlargement (>90th percentile) of the area of echogenicity at the anatomic site of the SN in the midbrain detected by transcranial sonography. This ultrasound sign has proven to be a valuable marker supporting the clinical diagnosis of Parkinson's disease (PD). Although there is considerable variation in the extent of echogenic signals at the anatomic site of the SN among PD patients, previous work suggests that SN+ is a stable marker throughout the course of the disease.

The increasing prevalence of Parkinson's disease in Estonia.

Objectives: A previous epidemiological study of Parkinson's disease (PD) in the county of Tartu, Estonia, found an adjusted prevalence rate of 152/100 000 persons. We aimed to determine PD prevalence almost 20 years later, as well as evaluate any dynamic changes in disease frequency compared to the first study.

Methods: A cross-sectional, community-based study was conducted over 2010-2016 in the county of Tartu, Estonia.

Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients.

Background: The relationship between Health-Related Quality of Life (HRQoL) and MDS-UPDRS has not been fully studied so far. The aim of this study was to evaluate the relationship between all MDS-UPDRS components and HRQoL in a representative international cohort of PD patients.

Methods: We collected demographic and disease-related data as well as MDS-UPDRS and PDQ8 scales.

Saliva changes in Parkinson's disease patients after injection of Botulinum neurotoxin type A.

Patients with Parkinson's disease (PD) are compromised by poor oral condition due to oropharyngeal bradykinesia, dysphagia, and the side effects of treatment. Intrasalivary gland injections of Botulinum neurotoxin type A (BNT-A) have been known to treat sialorrhea effectively in these patients. However, the decreased amount of saliva reduces self-cleaning ability that deteriorates oral hygiene and increases dental caries.

Factors associated with motor complications in Parkinson's disease.

Objectives: Levodopa is the most effective therapy for treating Parkinson's disease (PD); however, side effects such as dyskinesias and motor fluctuations may occur after some years of its usage. The aims of this study were to assess the frequency of and factors associated with motor complications among PD patients on levodopa treatment.

Methods: In a cross-sectional study carried out in 2010-2013, clinical data and treatment details were collected.

Prevalence of depressive symptoms and their association with brainstem raphe echogenicity in patients with Parkinson's disease and non-PD controls.

Despite advances in diagnostics and clinical recognition, depressive symptoms in Parkinson's disease (PD) exceeding normal limits remain effectively untreated. In this study, we report on the prevalence and severity of depressive symptoms as well as their association with brainstem raphe echogenicity in patients with PD and non-PD controls. The study included 266 Estonian PD patients and 168 age- and education-matched controls.

Looking beyond the brain to improve the pathogenic understanding of Parkinson's disease: implications of whole transcriptome profiling of Patients' skin.

Background: Parkinson's Disease is a progressive neurodegenerative disease, characterized by symptoms of motor impairment, resulting from the loss of dopaminergic neurons in the midbrain, however non-neuronal symptoms are also common. Although great advances have been made in the pathogenic understanding of Parkinson's Disease in the nervous system, little is known about the molecular alterations occurring in other non-neuronal organ systems. In addition, a higher rate of melanoma and non-melanoma skin cancer has been observed in the Parkinson's Disease population, indicating crosstalk between these diseases.

Nonmotor Features in Parkinson's Disease: What Are the Most Important Associated Factors?

Introduction. The purpose of this study was to demonstrate the frequency and severity of nonmotor symptoms and their correlations with a wide range of demographic and clinical factors in a large cohort of patients with Parkinson's disease (PD). Methods.

Substantia Nigra Hyperechogenicity: Validation of Transcranial Sonography for Parkinson Disease Diagnosis in a Large Estonian Cohort.

Objectives: Substantia nigra hyperechogenicity is a promising biomarker for Parkinson disease (PD). Substantia nigra hyperechogenicity has previously been established as a useful diagnostic criterion in several European and Asian patient cohorts. However, diagnostic cutoff values for substantia nigra hyperechogenicity remain unknown for most patient populations.

Health-related quality of life in Parkinson's disease: a cross-sectional study focusing on non-motor symptoms.

Background: The objective of this study was to investigate factors affecting health-related quality of life (HRQoL) among Estonian persons with Parkinson's disease (PD).

Methods: 268 persons with PD were evaluated using: the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS); the Hoehn and Yahr scale (HY); the Schwab and England Activities of Daily Living scale (SE-ADL); the Beck Depression Inventory (BDI); the Mini Mental State Examination (MMSE); the Parkinson's Disease Questionnaire (PDQ-39). Additional questions on clinical and socio-demographic variables were asked during a semi-structured interview.

Adapting the Sniffin' Sticks olfactory test to diagnose Parkinson's disease in Estonia.

Unlabelled: The aim of the study was to develop a culturally adapted translation of the 12-item smell identification test from Sniffin' Sticks (SS-12) for the Estonian population in order to help diagnose Parkinson's disease (PD).

Methods: A standard translation of the SS-12 was created and 150 healthy Estonians were questioned about the smells used as response options in the test. Unfamiliar smells were replaced by culturally familiar options.