Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Introduction: ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to mutations of ADCY5, which encodes an adenylate cyclase enzyme. The disease can occur in a sporadic or familial pattern.

Cognitive Complaints in Nondemented Parkinson's Disease Patients and Their Close Contacts do not Predict Worse Cognitive Outcome.

Objectives: The main purpose of this study was to investigate 4 methods of eliciting subjective cognitive complaints (SCCs) in Parkinson's disease (PD) patients without dementia and determine the relationship between their SCC and cognitive performance.

Design: This study was a retrospective analysis of a prospective cohort study.

Setting: Six North American movement disorder clinics.

Investigating Voice as a Biomarker for Leucine-Rich Repeat Kinase 2-Associated Parkinson's Disease.

We investigate the potential association between leucine-rich repeat kinase 2 (LRRK2) mutations and voice. Sustained phonations ('aaah' sounds) were recorded from 7 individuals with LRRK2-associated Parkinson's disease (PD), 17 participants with idiopathic PD (iPD), 20 non-manifesting LRRK2-mutation carriers, 25 related non-carriers, and 26 controls. In distinguishing LRRK2-associated PD and iPD, the mean sensitivity was 95.

Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers.

Background: With recent advances in the search for disease-modifying therapies for Parkinson's disease (PD) the importance of identifying prodromal markers becomes greater. Non-manifesting LRRK2 mutation carriers (NMC) are at risk for developing PD, and provide a population in which to identify possible markers.

Objective: The aim of this study was to test the hypothesis that NMC have differences in daily activity, fragmentation of sleep, arm swing asymmetry, and movement variability during walking, detectable by actigraphy, as compared to matched control subjects.

Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease.

Background: Heart rate variability is reduced in idiopathic PD, indicating cardiac autonomic dysfunction likely resulting from peripheral autonomic synucleinopathy. Little is known about heart rate variability in leucine-rich repeat kinase 2-associated PD.

Objectives: This study investigated heart rate variability in LRRK2-associated PD.

Colonic mucosal a-synuclein lacks specificity as a biomarker for Parkinson disease.

Objective: To determine the utility of detecting a-synuclein (aSyn) in colonic mucosal biopsy tissue as a potential diagnostic biomarker for Parkinson disease (PD).

Methods: We used the paraffin-embedded tissue (PET) blot, which degrades physiologic nonaggregated aSyn using proteinase K and enhances antigen retrieval allowing sensitive and selective detection of remaining protein aggregates, to detect aSyn in colonic mucosal biopsies from 15 patients with early PD (,3 years), 7 patients with later PD (.5 years), and 11 individuals without PD.

Emerging drugs for levodopa-induced dyskinesia.

Introduction: Levodopa continues to be the main symptomatic therapy for clinical features of Parkinson's disease. However, prolonged use leads to motor complications, including levodopa-induced dyskinesia (LID). This has debilitating impact on the patients and is a significant challenge for the treating physician.

Can Isolated Enlarged Virchow-Robin Spaces Influence the Clinical Manifestations of Parkinson's Disease?

Dilated Virchow-Robin (VR) spaces are usually not considered to be symptomatic. We present three cases presenting with atypical clinical features, which otherwise had clinical/imaging findings consistent with idiopathic Parkinson's disease. In all cases, an isolated large VR space in the basal ganglia contralateral to the side of symptom onset was observed.

Pathogenesis-targeted, disease-modifying therapies in Parkinson disease.

Parkinson disease is an inexorably progressive neurodegenerative disorder. Multiple attempts have been made to establish therapies for Parkinson disease which provide neuroprotection or disease modification-two related, but not identical, concepts. However, to date, none of these attempts have succeeded.