The Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme (ACE) in Parkinson’s Disease

Parkinson’s disease (PDI is a neurodegenerative disorder of unknown etiology. Both genetic and environmental factors are thought to be implicated to some extent. The ACE gene insertion/deletion (I/D) polymorphism has been associated with common neurodegenerative disorders that share similar clinical and neuropathological features with PD (Alzheimer’s disease). In this study we set out to examine the role of the ACE gene insertion/deletion (I/D) polymorphism in Parkinson’s disease (PD)

The Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme (ACE) in Parkinson’s Disease

Parkinson’s disease (PDI is a neurodegenerative disorder of unknown etiology. Both genetic and environmental factors are thought to be implicated to some extent. The ACE gene insertion/deletion (I/D) polymorphism has been associated with common neurodegenerative disorders that share similar clinical and neuropathological features with PD (Alzheimer’s disease). In this study we set out to examine the role of the ACE gene insertion/deletion (I/D) polymorphism in Parkinson’s disease (PD)

Txikispora philomaios n. sp., n. g., a micro-eukaryotic pathogen of amphipods, reveals parasitism and hidden diversity in Class Filasterea

This study provides a morphological, ultrastructural, and phylogenetic characterization of a novel micro-eukaryotic parasite (2.3–2.6 µm) infecting amphipod genera Echinogammarus and Orchestia. Longitudinal studies across two years revealed that infection prevalence peaked in late April and May, reaching 64% in Echinogammarus sp. and 15% in Orchestia sp., but was seldom detected during the rest of the year. The parasite infected predominantly hemolymph, connective tissue, tegument, and gonad, although hepatopancreas and nervous tissue were affected in heavier infections, eliciting melanization and granuloma formation. Cell division occurred inside walled parasitic cysts, often within host hemocytes, resulting in hemolymph congestion. Small subunit (18S) rRNA gene phylogenies including related environmental sequences placed the novel parasite as a highly divergent lineage within Class Filasterea, which together with Choanoflagellatea represent the closest protistan relatives of Metazoa. We describe the new parasite as Txikispora philomaios n. sp. n. g., the first confirmed parasitic filasterean lineage, which otherwise comprises four free-living flagellates and a rarely observed endosymbiont of snails. Lineage-specific PCR probing of other hosts and surrounding environments only detected T. philomaios in the platyhelminth Procerodes sp. We expand the known diversity of Filasterea by targeted searches of metagenomic datasets, resulting in 13 previously unknown lineages from environmental samples.Ministerio de Economía y Competitividad, Grant/Award Number: BFU2017- 90114- P; Horizon 2020 Framework Programme, Grant/Award Number: 747789; Department for Environment, Food and Rural Affairs, UK Government, Grant/Award Number: FB002A and FC1214; Hezkuntza, Hizkuntza Politika Eta Kultura Saila, Eusko Jaurlaritza, Grant/Award Number: PRE_2016_2_0124; Agencia Estatal de Investigación (AEI); Fondo Europeo de Desarrollo Regional (FEDER); Ayuda Juan de la Cierva—Incorporación, Grant/Award Number: IJC2018- 036657-

Technology in Parkinson's disease:challenges and opportunities

The miniaturization, sophistication, proliferation, and accessibility of technologies are enabling the capture of more and previously inaccessible phenomena in Parkinson's disease (PD). However, more information has not translated into a greater understanding of disease complexity to satisfy diagnostic and therapeutic needs. Challenges include noncompatible technology platforms, the need for wide-scale and long-term deployment of sensor technology (among vulnerable elderly patients in particular), and the gap between the "big data" acquired with sensitive measurement technologies and their limited clinical application. Major opportunities could be realized if new technologies are developed as part of open-source and/or open-hardware platforms that enable multichannel data capture sensitive to the broad range of motor and nonmotor problems that characterize PD and are adaptable into self-adjusting, individualized treatment delivery systems. The International Parkinson and Movement Disorders Society Task Force on Technology is entrusted to convene engineers, clinicians, researchers, and patients to promote the development of integrated measurement and closed-loop therapeutic systems with high patient adherence that also serve to (1) encourage the adoption of clinico-pathophysiologic phenotyping and early detection of critical disease milestones, (2) enhance the tailoring of symptomatic therapy, (3) improve subgroup targeting of patients for future testing of disease-modifying treatments, and (4) identify objective biomarkers to improve the longitudinal tracking of impairments in clinical care and research. This article summarizes the work carried out by the task force toward identifying challenges and opportunities in the development of technologies with potential for improving the clinical management and the quality of life of individuals with PD. © 2016 International Parkinson and Movement Disorder Society

Sarcoidosis with basal ganglial infiltration presenting as Parkinsonism

The present report describes the case of a woman with symptoms of Parkinsonism (slow and monotonous speech, left foot dragging and micrographia) that gradually developed over a period of 12 months. She had a 10-month history of untreated, asymptomatic sarcoidosis diagnosed by routine biopsy of an enlarged left supraclavicular lymph node. After her condition deteriorated, a brain MRI showed right basal ganglial areas of haemorrhage with perilesional fast fluid-attenuated inversion-recovery (FLAIR) abnormalities. Right stereotactic frame-based brain parenchymal biopsy of the lesion site revealed reactive central nervous system (CNS) tissue with perivascular chronic inflammation and non-caseating granulomas consistent with definite neurosarcoidosis. The patient was started on a high dose of prednisone with good initial response. When mild progression was noted within the next 12 months azathioprine was added to her treatment. The patient’s neurological status has been stable without progression of her Parkinsonian symptomatology

Anterocollis: clinical features and treatment options

Anterocollis (AC) is a form of cervical dystonia (CD) that produces patterned, repetitive muscle contractions that result in neck flexion. It has been mainly described in the context of parkinsonian movement disorders including Parkinson's disease and multiple system atrophy. We performed a review of consecutive AC patients seen in our Movement Disorders Clinic over a 15-year period. The diagnosis of AC was based on degree of abnormal neck anteroflexion. Out of 399 CD patients 27 (6.8%) had features of AC. AC was more prevalent in women (67.3%). It was associated with neuroleptic exposure, PD and a family history of movement/neurological disorder. No definite cases with MSA and AC were described in our cohort. Botulinum toxin injections and tetrabenazine produced clinical improvement. The demographic and phenotypic features and treatment outcomes of AC in our cohort were somewhat different from other types of CD

Objective tremor registration during DBS surgery for Essential Tremor

Essential Tremor (ET) is characterized by a 4–12-Hz postural and kinetic tremor, most commonly affecting the upper limbs. Deep brain stimulation (DBS) of the thalamus (Vim) has been found to be highly effective in severe/refractory forms of ET. Intra-operative assessment of tremor is performed using clinical methods based on patient and physician perception of tremor intensity. We present for the first time the case of a patient whose tremor was objectively monitored/quantified pre- and intra-operatively using device-based tremor registration to supplement clinical measures. We present the case of a 76-year-old right-handed woman that received unilateral (left-sided) DBS of the ventrointermediate (Vim) nucleus of thalamus (Vim) for medically refractory ET. Tremor was monitored with an accelerometer-based Tremor Pen ®, which is part of a simple portable device (CATSYS 2000 System ®, Danish Product Development Ltd., DK, www.catsys.dk). The patient was asked to perform tasks for tremor evaluation before and during thalamic DBS. Tremor quantification revealed a significant improvement (34.7-fold) in the contralateral (right) limb following macro-stimulation. No significant improvement was registered in the ipsilateral (non-operated) side. Simple electronic tremor registration methods during DBS of the Vim nucleus of the thalamus may supplement the existing methodology that is solely based on subjective measures derived from clinical observations

Impact of Metformin-Induced Gastrointestinal Symptoms on Quality of Life and Adherence in Patients with Type 2 Diabetes

Aims: Gastrointestinal (GI) symptoms are common in patients with type 2 diabetes mellitus (T2DM). This study assesses the impact of 1) metformin on GI symptoms and health-related quality of life (HRQoL) and 2) metformin-associated GI symptoms on medication adherence in patients with type 2 diabetes newly beginning therapy. Methods: Patients with T2DM aged ≥ 18 years starting metformin from January to June 2007 who filled their prescriptions for ≥ 3 months were identified from a health benefits company database. Via telephone, GI symptom impact was evaluated in a 360-patient sample using the validated Bowel Symptom Questionnaire and Medical Outcomes Study 36-Item Short-Form Health (SF-36) survey. Adherence was assessed using the medication possession ratio (MPR). Logistic regression adjusting for demographic and clinical covariates was used to assess the relationship between GI symptoms and MPR < 80%. Results: The most and least common GI symptoms reported were diarrhea (62.1%) and retching (21.1%), respectively. Most GI symptoms were associated with lower physical and mental HRQoL (P < 0.05). Most changes in specific HRQoL reached the minimum important difference of 3 points. Bloating, nausea, and abdominal pain were significantly associated with MPR < 80%. Adjustment for demographic, clinical, and HRQoL factors made these relationships less evident. Conclusions: Metformin-associated GI symptoms in patients with T2DM lead to lower physical and mental HRQoL, which may result in patient nonadherence or physician reluctance to optimally titrate the metformin dose