The Latest Movement Disorders Journal Articles

Please login or register to bookmark this article feed
Bookmark this %label%

Keep up to date with the latest in movement disorders. Check out the latest diabetes articles from leading medical journals in a single view, helping you discover relevant articles quickly and easily

  • Serum BDNF discriminates Parkinson’s disease patients with depression from without depression and reflect motor severity and gender differences.
    To evaluate the diagnostic value of serum Brain-derived neurotrophic factor (BDNF) levels for discriminating PD with depression from without depression, and to investigate whether serum BDNF levels were associated with motor severity and gender in depressed PD patients.Demographic and clinical data were collected from 122 PD patients with depression, 137 without depression and 110 healthy […]
  • Central retina changes in Parkinson’s disease: a systematic review and meta-analysis.
    Central retina imaging is important for early Parkinson’s disease (PD) recognition. We aimed to investigate central retina changes using spectral domain-optical coherence tomography (SD-OCT) in PD patients.We systematically searched PubMed and EMBASE to identify studies comparing the whole or individual layer thickness of central retina between PD patients and health controls using SD-OCT from inception […]
  • Spinocerebellar ataxia type 23 (SCA23): a review.
    Spinocerebellar ataxias (SCAs), formerly known as autosomal dominant cerebellar ataxias (ADCAs), are a group of hereditary heterogeneous neurodegenerative diseases. Gait, progressive ataxia, dysarthria, and eye movement disorder are common symptoms of spinocerebellar ataxias. Other symptoms include peripheral neuropathy, cognitive impairment, psychosis, and seizures. Patients may lose their lives due to out of coordinated respiration and/or swallowing. […]
  • Central sensitization in migraine is related to restless legs syndrome.
    We hypothesized that, in migraine patients, central sensitization (CS) could be associated with comorbid restless legs syndrome (RLS).We conducted a case-control study including 186 migraine patients and 186 age- and sex-matched healthy controls. Symptoms related to CS syndrome were assessed by the Central Sensitization Inventory (CSI). Individuals with CSI Part A (CSI-A) scores ≥ 40 were defined […]
  • Nanoparticles for drug delivery in Parkinson’s disease.
    Although effective symptomatic treatments for Parkinson’s disease (PD) have been available for some time, efficient and well-controlled drug delivery to the brain has proven to be challenging. The emergence of nanotechnology has created new opportunities not only for improving the pharmacokinetics of conventional therapies but also for developing novel treatment approaches and disease modifying therapies. […]
  • Fronto-striatal circuits for cognitive flexibility in far from onset Huntington’s disease: evidence from the Young Adult Study.
    Cognitive flexibility, which is key for adaptive decision-making, engages prefrontal cortex (PFC)-striatal circuitry and is impaired in both manifest and premanifest Huntington’s disease (pre-HD). The aim of this study was to examine cognitive flexibility in a far from onset pre-HD cohort to determine whether an early impairment exists and if so, whether fronto-striatal circuits were […]
  • PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study.
    In view of upcoming clinical trials, quantitative molecular markers accessible in peripheral blood are of critical importance as prognostic or pharmacodynamic markers in genetic neurodegenerative diseases such as Spinocerebellar Ataxia Type 3 (SCA3), in particular for signaling target engagement. In this pilot study, we focused on the quantification of ataxin-3, the protein altered in SCA3, […]
  • DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.
    Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder caused by CAG repeat expansions in the atrophin-1 gene and is inherited in an autosomal dominant fashion. There are currently no disease-modifying treatments available. The broad development of therapies for DRPLA, as well as other similar rare diseases, has hit a roadblock due to the rarity of […]
  • Better quality of life and less caregiver strain in young-onset Parkinson’s disease: a multicentre retrospective cohort study.
    Parkinson’s disease (PD) is typically considered as a disease of the elderly. However, there is a sizeable subgroup of patients where PD starts at a younger age, known as young-onset PD (YOPD). We evaluated the differences in quality of life and caregiver strain between YOPD and later onset PD (LOPD) patients in a large cohort.In […]
  • Management of Parkinson’s disease patients after DBS by remote programming: preliminary application of single center during quarantine of 2019-nCoV.
    Deep brain stimulation (DBS) is an effective treatment for patients with Parkinson’s disease (PD). On time follow-up and timely programing of symptoms are important measures to maintain the effectiveness of DBS. Due to the highly contagious nature of 2019-nCoV, patients were quarantined. With the help of Internet technologies, we continued to provide motor and non-motor […]
  • Monogenic variants in dystonia: an exome-wide sequencing study.
    Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the […]
  • Interrupting sequence variants and age of onset in Huntington’s disease: clinical implications and emerging therapies.
    Huntington’s disease is a fatal neurodegenerative disorder that is caused by CAG-CAA repeat expansion, encoding polyglutamine, in the huntingtin (HTT) gene. Current age-of-clinical-onset prediction models for Huntington’s disease are based on polyglutamine length and explain only a proportion of the variability in age of onset observed between patients. These length-based assays do not interrogate the […]
  • Biomarkers in functional movement disorders: a systematic review.
    Functional movement disorders (FMD) are proposed to reflect a specific problem with voluntary control of movement, despite normal intent to move and an intact neural capacity for movement. In many cases, a positive diagnosis of FMD can be established on clinical grounds. However, the diagnosis remains challenging in certain scenarios, and there is a need […]
  • Study on sleep-wake disorders in patients with genetic and non-genetic amyotrophic lateral sclerosis.
    To study the frequency and clinical features of sleep disturbances in amyotrophic lateral sclerosis (ALS) patients and compare sleep disorders between ALS with and without mutations.In this case-control study, 204 ALS patients and 206 controls were included. We evaluated sleep quality using Pittsburgh Sleep Quality Index (PSQI). Excessive daytime sleepiness (EDS) was diagnosed according to […]
  • Sexual function, intimate relationships and Friedreich ataxia.
    Sexual dysfunction (SD) is reported in neurological conditions similar to Friedreich ataxia (FRDA). Anecdotally individuals with FRDA report SD including erectile dysfunction and altered genital sensation. Understanding SD in FRDA assists health professionals identify SD issues and improve healthcare for individuals with FRDA.To quantify if, and to what extent, people with FRDA experience challenges with […]
  • Diffusion imaging in Huntington’s disease: comprehensive review.
    Huntington’s disease (HD) is a monogenic disorder with 100% penetrance. With the advent of genetic testing in adults, disease-related, structural brain changes can be investigated from the earliest, premorbid stages of HD. While examining macrostructural change characterises global neuronal damage, investigating microstructural alterations provides information regarding brain organisation and its underlying biological properties. Diffusion MRI […]
  • Pallidal deep brain stimulation in primary Meige syndrome: clinical outcomes and psychiatric features.
    To study the efficacy and safety of bilateral globus pallidus internus deep brain stimulation (GPi-DBS) in refractory Meige syndrome (MS) and evaluate the psychiatric disorders before and after surgery.Twenty-two patients with MS treated with bilateral GPi-DBS were retrospectively analysed before surgery and after continuous neurostimulation. Before surgery, patients were assessed by the Burke-Fahn-Marsden Dystonia Rating […]
  • Spinal cord stimulation therapy for gait dysfunction in progressive supranuclear palsy patients.
    There are no effective symptomatic treatments for progressive supranuclear palsy (PSP). Recent studies report benefits of spinal cord stimulation (SCS) for freezing of gait (FOG) and gait disorders in Parkinson’s disease and atypical Parkinsonism patients. This is the first study to report therapeutic effects of SCS in Richardson’s syndrome PSP (PSP-RS) patients.Epidural SCS was implanted […]
  • Action fluency identifies different sex, age, global cognition, executive function and brain activation profile in non-demented patients with Parkinson’s disease.
    Patients with Parkinson’s disease (PD) have difficulties processing action words, which could be related to early cognitive decline. The action fluency test can be used to quickly and easily assess the processing of action words in PD. The goal of this study was to characterize how the action fluency test relates to personal characteristics, disease […]
  • Huntington’s disease-like 2: a phenocopy not to miss.
    A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington’s disease were […]
  • Kinematic but not clinical measures predict falls in Parkinson-related orthostatic hypotension.
    We sought to test the hypothesis that technology could predict the risk of falls in Parkinson’s disease (PD) patients with orthostatic hypotension (OH) with greater accuracy than in-clinic assessment.Twenty-six consecutive PD patients with OH underwent clinical (including home-like assessments of activities of daily living) and kinematic evaluations of balance and gait as well as beat-to-beat […]
  • Longitudinal prediction of falls and near falls frequencies in Parkinson’s disease: a prospective cohort study.
    Several prediction models for falls/near falls in Parkinson’s disease (PD) have been proposed. However, longitudinal predictors of frequency of falls/near falls are poorly investigated. Therefore, we aimed to identify short- and long-term predictors of the number of falls/near falls in PD.A prospective cohort of 58 persons with PD was assessed at baseline (mean age and […]
  • Ataxia telangiectasia: what the neurologist needs to know.
    Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia-with some preserved ataxia telangiectasia-mutated (ATM) kinase activity-have a milder and often atypical phenotype, which can lead to long delays in diagnosis. Clinicians need to be […]
  • Eye movements and association with regional brain atrophy in clinical subtypes of progressive supranuclear palsy.
    To investigate oculomotor impairment in subtypes of progressive supranuclear palsy (PSP) and its associations with clinical features and regional brain volumes in PSP.We compared the video-oculography (VOG) findings of 123 PSP patients, consisting of 66 PSP-Richardson syndrome (PSP-RS), 28 PSP-parkinsonism (PSP-P), and 29 PSP-progressive gait freezing (PSP-PGF), along with 80 Parkinson’s disease (PD) patients. We […]
  • Potential human transmission of amyloid β pathology: surveillance and risks.
    Studies in experimental animals show transmissibility of amyloidogenic proteins associated with prion diseases, Alzheimer’s disease, Parkinson’s disease, and other neurodegenerative diseases. Although these data raise potential concerns for public health, convincing evidence for human iatrogenic transmission only exists for prions and amyloid β after systemic injections of contaminated growth hormone extracts or dura mater grafts […]
  • Patient perspectives on the therapeutic profile of botulinum neurotoxin type A in cervical dystonia.
    Botulinum neurotoxin type A (BoNT-A) is an effective pharmacological treatment for the management of cervical dystonia (CD) that requires repeated administration at variable intervals. We explored patient perceptions of the impact of CD and the waning of BoNT-A therapeutic effects.An internet-based survey was conducted through Carenity, a global online patient community, from May to September […]
  • Assessment of Wearing Off in Parkinson’s disease using objective measurement.
    Development of “Wearing Off” (WO) of motor and non-motor function in Parkinson’s disease (PD) adversely affects quality of life. This suggest that identifying and treating WO is important. However, identification of WO depends on people with PD (PwP) recognising and reporting WO and there is a perception that WO may be significantly underestimated.We investigate the […]
  • Parkinson’s disease determinants, prediction and gene-environment interactions in the UK Biobank.
    To systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk with these factors. To evaluate whether existing risk prediction algorithms are improved by the inclusion of genetic risk scores.We identified individuals with an incident diagnosis of PD (n=1276) and controls (n=500 406) […]
  • Deep brain stimulation of the internal globus pallidus does not affect the limbic circuit in patients with Parkinson’s disease: a PET study.
    Internal globus pallidus (GPi) deep brain stimulation (DBS) is a safe and effective alternative treatment in Parkinson’s disease (PD) for patients with cognitive impairment. However, no study has yet investigated metabolic changes within a large series of patients undergoing GPi stimulation.We assessed motor, cognitive and psychiatric changes, as well as modifications in brain glucose metabolism […]
  • CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
    The ataxias are a group of disorders that manifest with balance, movement, speech and visual problems. They can arise due to dysfunction of the cerebellum, the vestibular system and/or the sensory neurons. Genetic defects are a common cause of chronic ataxia, particularly common are repeat expansions in this group of conditions. Co-occurrence of cerebellar ataxia […]
  • Dopaminergic therapy and prefrontal activation during walking in individuals with Parkinson’s disease: does the levodopa overdose hypothesis extend to gait?
    The “levodopa-overdose hypothesis” posits that dopaminergic replacement therapy (1) increases performance on tasks that depend on the nigrostriatal-pathway (e.g., motor-control circuits), yet (2) decreases performance on tasks that depend upon the mesocorticolimbic-pathway (e.g., prefrontal cortex, PFC). Previous work in Parkinson’s disease (PD) investigated this model while focusing on cognitive function. Here, we evaluated whether this […]
  • SMILE: a predictive model for Scoring the severity of relapses in MultIple scLErosis.
    In relapsing-remitting multiple sclerosis (RRMS), relapse severity and residual disability are difficult to predict. Nevertheless, this information is crucial both for guiding relapse treatment strategies and for informing patients.We, therefore, developed and validated a clinical-based model for predicting the risk of residual disability at 6 months post-relapse in MS.We used the data of 186 patients with […]
  • Does pallidal neuromodulation influence cognitive decline in Huntington’s disease?
    Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder associated with motor, psychiatric and cognitive deterioration over time. To date, Continuous Electrical Neuromodulation (CEN) of the globus pallidus internus (GPi) has been reported to improve chorea but little is known about cognitive progression in these patients. We propose to examine CEN impact on expected cognitive […]
  • Parkinson’s disease laterality: a 11C-PE2I PET imaging study.
    Asymmetry of striatal dopaminergic deficits and motor symptoms is a typical characteristic of idiopathic Parkinson’s disease (PD). This study aims to characterise the trend of asymmetry in moderate-stage PD. We performed a 19-month longitudinal study in 27 patients with PET-CT imaging and appropriate clinical assessments. 11C-PE2I non-displaceable binding potential (BPND) was calculated bilaterally for the […]
  • Feasibility and initial validation of ‘HD-Mobile’, a smartphone application for remote self-administration of performance-based cognitive measures in Huntington’s disease.
    Smartphone-based cognitive assessment measures allow efficient, rapid, and convenient collection of cognitive datasets. Establishment of feasibility and validity is essential for the widespread use of this approach. We describe a novel smartphone application (HD-Mobile) that includes three performance-based cognitive tasks with four key outcome measures, for use with Huntington’s disease (HD) samples. We describe known […]
  • Vascular risk factors, white matter lesions and cognitive impairment in Parkinson’s disease: the PACOS longitudinal study.
    Vascular risk factors (VRFs) may be associated with cognitive decline in early Parkinson’s disease (PD) but results are inconclusive. The identification of modifiable risk factors is relevant for prevention and treatment.Parkinson’s disease (PD) patients of the PACOS cohort who underwent a baseline and follow-up neuropsychological evaluation were enrolled in the study. PD with Mild Cognitive […]
  • Epileptic seizures of suspected autoimmune origin: a multicentre retrospective study.
    To analyse autoantibody status in a well-defined European multicentre cohort of patients with epilepsy of unknown aetiology and to validate the recently proposed Antibody Prevalence in Epilepsy (APE2) and Response to ImmunoTherapy in Epilepsy (RITE2) scores.We retrospectively collected clinical and paraclinical data of 92 patients referred to the Neurology Units of Verona and Salzburg between […]
  • Descriptive neuroradiology: beyond the hummingbird.
    Radiology signs have long been described in ways that communicate the imagery around us to enhance our cognitive perception. Here, we describe the use and limitations of 10 such signs in neuroradiology, divided into three groups. The first are signs that are reliable for a specific diagnosis, such as the Medusa head sign indicating a […]
  • Descriptive neuroradiology: beyond the hummingbird.
    Radiology signs have long been described in ways that communicate the imagery around us to enhance our cognitive perception. Here, we describe the use and limitations of 10 such signs in neuroradiology, divided into three groups. The first are signs that are reliable for a specific diagnosis, such as the Medusa head sign indicating a […]
  • Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
    Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among apparently healthy carriers of mutations associated with the most common SCAs (SCA1, SCA2, SCA3, and SCA6), and the sensitivity of clinical and functional measures to detect change in these individuals.In this prospective, longitudinal, observational cohort study, […]
  • Towards early disease modification of Parkinson’s disease: a review of lessons learned in the Alzheimer field.
    Parkinson’s disease (PD) research is beginning to focus on early disease modification and prevention. The therapeutic pipeline includes a growing range of pharmacological interventions that could theoretically intervene with the underlying disease process. It is hoped that applying such interventions in a very early stage of the disease pathology, before the onset of motor symptoms […]
  • The PRIAMO study: age- and sex-related relationship between prodromal constipation and disease phenotype in early Parkinson’s disease.
    To explore the impact of sex and age on relationship between prodromal constipation and disease phenotype in Parkinson’s disease at early stages.A total of 385 Parkinson’s disease patients from the PRIAMO study were classified according to the presence of prodromal constipation and followed for 24 months. Multivariable mixed-effect models were applied. All analyses were performed separately […]
  • Beyond PD-MCI: objectively defined subtle cognitive decline predicts future cognitive and functional changes.
    Cognitive impairment is prevalent among individuals with Parkinson’s disease (PD). Effort has been made to identify individuals at risk for cognitive decline and dementia. Objectively-defined subtle cognitive decline (Obj-SCD) is a novel classification that may identify individuals at risk for cognitive decline prior to a diagnosis of mild cognitive impairment (MCI). We examined the utility […]
  • Progression of sleep disturbances in Parkinson’s disease: a 5-year longitudinal study.
    Sleep disorders can occur in early Parkinson’s disease (PD). However, the relationship between different sleep disturbances and their longitudinal evolution has not been fully explored.To describe the frequency, coexistence, and longitudinal change in excessive daytime sleepiness (EDS), insomnia, and probable REM sleep behavior disorder (pRBD) in early PD.Data were obtained from the Parkinson’s Progression Markers […]
  • The impact of the initial severity on later outcome: retrospective analysis of a large cohort of botulinum toxin naïve patients with idiopathic cervical dystonia.
    The aim of study was to demonstrate that the first three injections of botulinum neurotoxin type A (BoNT/A) appear to be less effective in botulinum toxin naïve patients with idiopathic cervical dystonia (CD) with mild symptoms and low severity scores (TSUI-scores) at onset of BoNT/A-therapy compared to patients with full-blown CD and high initial TSUI-scores.In […]
  • The European Physiotherapy Guideline for Parkinson’s Disease: translation for non-English speaking countries.
    The use of the European Physiotherapy Guideline for Parkinson’s Disease is limited in countries where the official language is not English.To provide practical steps on how to translate the European Physiotherapy Guideline for Parkinson’s Disease.We used the translation process of the Portuguese version as an example of how to define the recommended steps. A combination […]
  • Changes in the EEG spectral power during dual-task walking with aging and Parkinson’s disease: initial findings using Event-Related Spectral Perturbation analysis.
    The ability to maintain adequate motor-cognitive performance under increasing task demands depends on the regulation and coordination of neural resources. Studies have shown that such resources diminish with aging and disease. EEG spectral analysis is a method that has the potential to provide insight into neural alterations affecting motor-cognitive performance. The aim of this study […]
  • Accuracy of death certificates for recording parkinsonian syndromes and associated dementia.
    Death certification is often used to identify patients with certain diseases in epidemiologic research. There have been few studies looking at the accuracy of recording of parkinsonian diagnoses, any associated dementia and the cause of death on death certificates in people with parkinsonian conditions. This study aimed to assess this.Data for these analyses were derived […]
  • Sex and freezing of gait in Parkinson’s disease: a systematic review and meta-analysis.
    It is unknown how sex affects the prevalence of freezing of gait (FOG). We conducted a systematic review and meta-analysis to establish the sex-specific prevalence of FOG in persons with Parkinson’s disease (PD). In addition, we investigated whether men and women were represented accurately in intervention trials targeting FOG.We queried the EMBASE and PubMed databases […]
  • Data-driven evolution of neurosurgical gene therapy delivery in Parkinson’s disease.
    Loss of nigrostriatal dopaminergic projection neurons is a key pathology in Parkinson’s disease, leading to abnormal function of basal ganglia motor circuits and the accompanying characteristic motor features. A number of intraparenchymally delivered gene therapies designed to modify underlying disease and/or improve clinical symptoms have shown promise in preclinical studies and subsequently were evaluated in […]
  • Quality of life outcomes after globus pallidus internus deep brain stimulation in idiopathic or inherited isolated dystonia: a meta-analysis.
    Several studies reported the beneficial effects of globus pallidus internus deep brain stimulation (GPi DBS) on health-related quality of life (HRQoL) in patients with inherited or idiopathic isolated dystonia. However, the impact of this intervention on physical and mental/psychological domains and the effects over time remain unclear.We conducted a systematic literature review from January 2000 […]
  • Cholinergic nucleus 4 atrophy and gait impairment in Parkinson’s disease.
    There is evidence that cortical cholinergic denervation contributes to gait and balance impairment in Parkinson’s Disease (PD), especially reduced gait speed.The objective of this study was to determine the relationship between cholinergic basal forebrain gray matter density (GMD) and gait in PD patients.We investigated 66 PD patients who underwent a pre-surgical evaluation for a neurosurgical […]
  • The specific pattern of retinal nerve fiber layer thinning in Parkinson’s disease: a systematic review and meta-analysis.
    The peripapillar nerve fiber layer (pRNFL) thinning in different retinal quadrants or sectors remains controversy. We conducted a systematic review and meta-analysis on the pattern of pRNFL thinning in Parkinson’s disease (PD) patients to provide a biomarker for PD differential diagnosis.We systematically searched PubMed and EMBASE to identify studies comparing pRNFL thickness in PD patients […]
  • Prodromal Parkinson disease in patients with idiopathic hyposmia.
    Idiopathic hyposmia (IH) is a prodromal marker of Parkinson disease (PD). However, IH is common in the general population and only a minority will develop PD. Identification of individuals with IH at prodromal stage of PD would serve to select them to implement neuroprotective agents, when available.To identify prodromal PD in IH patients using the […]
  • Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera.
    IgG4 antibodies against neurofascin (Nfasc155 and Nfasc140/186), contactin (CNTN1) and contactin-associated protein (Caspr1) are described in specific subtypes of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our objective was to assess, in a real-life practice, the incidence, the clinical features and the response to treatment of these forms of CIDP.1500 sera of patients suspected of having CIDP […]
  • Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
    Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-exome/genome sequencing.Here, we report the clinical presentation of two siblings with a novel genetic form of Behr syndrome. We performed whole-exome […]
  • Discrete changes in brain volume after deep brain stimulation in patients with Parkinson’s disease.
    Deep brain stimulation (DBS), targeting the subthalamic nucleus (STN) and globus pallidus interna, is a surgical therapy with class 1 evidence for Parkinson’s disease (PD). Bilateral DBS electrodes may be implanted within a single operation or in separate staged surgeries with an interval of time that varies patient by patient. In this study, we used […]
  • Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.
    Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were […]
  • Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.
    Variants in the PNPLA6 gene are known to cause 4 distinct phenotypes. One known phenotype is Hereditary Spastic Paraplegia type 39 (HSP 39), a rare neurodegenerative condition characterized by variable onset of lower limb spasticity, weakness and ataxia. Little is known about complications of HSP 39 in adulthood. Here, we report a family of three […]
  • Apomorphine formulation may influence subcutaneous complications from continuous subcutaneous apomorphine infusion in Parkinson’s disease.
    Continuous subcutaneous (s.c.) apomorphine infusion is an effective therapy for Parkinson’s disease (PD), but a limitation is the formation of troublesome s.c. nodules. Various chemically non-identical apomorphine formulations are available. Anecdotal experiences have suggested that shifting from one of these (Apo-Go PumpFill®; apoGPF) to another (Apomorphine PharmSwed®; apoPS) may influence the occurrence and severity of […]