Steven A. Gunzler
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View article: Pain localization and response to botulinum toxin in cervical dystonia
Pain localization and response to botulinum toxin in cervical dystonia Open
Introduction Pain is a common symptom of cervical dystonia (CD). The mainstay of treatment of CD is botulinum toxin, which is known to have benefits in relieving pain. We aimed to characterize the locations of pain in patients with CD, and…
View article: Exploring the early drivers of pain in Parkinson’s disease
Exploring the early drivers of pain in Parkinson’s disease Open
Pain is a common and complex non-motor symptom in people with Parkinson's disease (PWP). Little is known about the genetic drivers of pain in PWP, and progress in its study has been challenging. Here, we conducted two genome-wide associati…
View article: BCKDK loss impairs mitochondrial Complex I activity and drives alpha-synuclein aggregation in models of Parkinson’s disease
BCKDK loss impairs mitochondrial Complex I activity and drives alpha-synuclein aggregation in models of Parkinson’s disease Open
Mitochondrial dysfunction and α-synuclein (αSyn) aggregation are key contributors to Parkinson's Disease (PD). While genetic and environmental risk factors, including mutations in mitochondrial-associated genes, are implicated in PD, the p…
View article: Seeding activity of skin misfolded tau as a biomarker for tauopathies
Seeding activity of skin misfolded tau as a biomarker for tauopathies Open
Background Tauopathies are a group of age-related neurodegenerative diseases characterized by the accumulation of pathologically hyperphosphorylated tau protein in the brain, leading to prion-like aggregation and propagation. They include …
View article: A minimally invasive biomarker for sensitive and accurate diagnosis of Parkinson’s disease
A minimally invasive biomarker for sensitive and accurate diagnosis of Parkinson’s disease Open
Seeding activities of disease-associated α-synuclein aggregates (αSynD), a hallmark of Parkinson's disease (PD), are detectable by seed amplification assay (αSyn-SAA) and being developed as a diagnostic biomarker for PD. Sensitive and accu…
View article: A minimally Invasive Biomarker for Sensitive and Accurate Diagnosis of Parkinson’s Disease
A minimally Invasive Biomarker for Sensitive and Accurate Diagnosis of Parkinson’s Disease Open
Importance Parkinson’s disease (PD), the second most common neurodegenerative disease, is pathologically characterized by intraneuronal deposition of misfolded alpha-synuclein aggregates (αSyn D ). αSyn D seeding activities in CSF and skin…
View article: A person-centered approach to characterizing longitudinal ambulatory impairment in Parkinson's disease
A person-centered approach to characterizing longitudinal ambulatory impairment in Parkinson's disease Open
Loss of ambulation is common and highly variable in Parkinson’s disease (PD), and poorly understood from the perspectives of those with PD. Gaining insights to the anticipated perceived trajectories and their drivers, will facilitate patie…
View article: A person-centered approach to characterizing longitudinal ambulatory impairment in Parkinson's disease
A person-centered approach to characterizing longitudinal ambulatory impairment in Parkinson's disease Open
Ambulatory impairment in Parkinson’s disease (PD) is common and complex, and poorly understood from the perspectives of those with PD. Gaining insights to the anticipated perceived trajectories and their drivers, will further facilitate pa…
View article: Seeding Activity of Skin Misfolded Tau as a Novel Biomarker for Tauopathies
Seeding Activity of Skin Misfolded Tau as a Novel Biomarker for Tauopathies Open
Tauopathies are a group of age-related neurodegenerative diseases with a molecular hallmark of the prion-like propagation and accumulation of pathologically phosphorylated tau protein in the brain. They include Alzheimer’s disease (AD), pr…
View article: Using a smartwatch and smartphone to assess early Parkinson’s disease in the WATCH-PD study
Using a smartwatch and smartphone to assess early Parkinson’s disease in the WATCH-PD study Open
Digital health technologies can provide continuous monitoring and objective, real-world measures of Parkinson’s disease (PD), but have primarily been evaluated in small, single-site studies. In this 12-month, multicenter observational stud…
View article: Improving levodopa delivery: IPX203, a novel extended-release carbidopa-levodopa formulation
Improving levodopa delivery: IPX203, a novel extended-release carbidopa-levodopa formulation Open
Introduction: IPX203 is a novel oral extended-release (ER) formulation of carbidopa (CD) and levodopa (LD) developed to address the short half-life and limited area for absorption of LD in the gastrointestinal tract. This paper presents th…
View article: Heterogeneous pain trajectories in persons with Parkinson's disease
Heterogeneous pain trajectories in persons with Parkinson's disease Open
This latent class growth analysis, applied to people with Parkinson's disease, provides a template for using self-reported outcomes to improve our understanding of pain trajectories.
View article: Recommendations for Virtual Administration of the <scp>PSP</scp> Rating Scale
Recommendations for Virtual Administration of the <span>PSP</span> Rating Scale Open
Our article validating a subset of the Progressive Supranuclear Palsy Rating Scale (PSPRS) for video administration1 has prompted questions about how best to administer the individual test items given the constraints of that medium and of …
View article: A Modified Progressive Supranuclear Palsy Rating Scale for Virtual Assessments
A Modified Progressive Supranuclear Palsy Rating Scale for Virtual Assessments Open
Background The reliability of the Progressive Supranuclear Palsy Rating Scale (PSPRS) using teleneurology has not been assessed. Objectives To test whether removing items inadequately assessed by video would impact measurement of PSP sever…
View article: Discrimination of MSA-P and MSA-C by RT-QuIC analysis of olfactory mucosa: the first assessment of assay reproducibility between two specialized laboratories
Discrimination of MSA-P and MSA-C by RT-QuIC analysis of olfactory mucosa: the first assessment of assay reproducibility between two specialized laboratories Open
Background Detection of the pathological and disease-associated alpha-synuclein (αSyn D ) in the brain is required to formulate the definitive diagnosis of multiple system atrophy (MSA) and Parkinson’s disease (PD). We recently showed that…
View article: Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression
Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression Open
ClinicalTrials.gov Identifier: NCT02642393.
View article: Quality Improvement in Neurology
Quality Improvement in Neurology Open
Parkinson disease (PD) is the second most common neurodegenerative disorder, after Alzheimer disease,1 and the number of individuals with PD worldwide more than doubled between 1990 and 2015.2 In 2016, PD affected an estimated 6.1 million …
View article: Streamlined alpha-synuclein RT-QuIC assay for various biospecimens in Parkinson’s disease and dementia with Lewy bodies
Streamlined alpha-synuclein RT-QuIC assay for various biospecimens in Parkinson’s disease and dementia with Lewy bodies Open
Definitive diagnosis of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB) relies on postmortem finding of disease-associated alpha-synuclein (αSyn D ) as misfolded protein aggregates in the central nervous system (CNS). The rece…
View article: Automated Computer Vision Assessment of Hypomimia in Parkinson Disease: Proof-of-Principle Pilot Study
Automated Computer Vision Assessment of Hypomimia in Parkinson Disease: Proof-of-Principle Pilot Study Open
Background Facial expressions require the complex coordination of 43 different facial muscles. Parkinson disease (PD) affects facial musculature leading to “hypomimia” or “masked facies.” Objective We aimed to determine whether modern comp…
View article: Skin α-Synuclein Aggregation Seeding Activity as a Novel Biomarker for Parkinson Disease
Skin α-Synuclein Aggregation Seeding Activity as a Novel Biomarker for Parkinson Disease Open
This study provides proof-of-concept that skin αSynP seeding activity may serve as a novel biomarker for antemortem diagnoses of PD and other synucleinopathies.
View article: Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation
Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation Open
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View article: Automated Computer Vision Assessment of Hypomimia in Parkinson Disease: Proof-of-Principle Pilot Study (Preprint)
Automated Computer Vision Assessment of Hypomimia in Parkinson Disease: Proof-of-Principle Pilot Study (Preprint) Open
BACKGROUND Facial expressions require the complex coordination of 43 different facial muscles. Parkinson disease (PD) affects facial musculature leading to “hypomimia” or “masked facies.” OBJECTIVE We aimed to determine whether modern c…
View article: CSF neurofilament light chain and phosphorylated tau 181 predict disease progression in PSP
CSF neurofilament light chain and phosphorylated tau 181 predict disease progression in PSP Open
Both CSF p-tau and NfL correlate with disease severity and rate of disease progression in PSP. The inverse correlation of p-tau with disease severity suggests a potentially different mechanism of tau pathology in PSP as compared to Alzheim…
View article: A randomized trial of individual versus group-format exercise and self-management in individuals with Parkinson&rsquo;s disease and comorbid depression
A randomized trial of individual versus group-format exercise and self-management in individuals with Parkinson’s disease and comorbid depression Open
Both group CDSM plus exercise and self-guided CDSM plus exercise can improve depression in PD-Dep. These findings suggest that development of a remotely delivered group-based CDSM format plus manualized exercise program could be useful for…
View article: Progression of brain atrophy in PSP and CBS over 6 months and 1 year
Progression of brain atrophy in PSP and CBS over 6 months and 1 year Open
Volume loss is quantifiable over a period of 6 months in CBS and PSP. Future clinical trials may be able to combine CBS and PSP to measure therapeutic effects.