Publications by authors named "Samuel Frank"
Obesity and the development of Parkinson's disease within the Framingham Heart study cohort.
Clin Park Relat Disord
December 2024
Objective: To determine the role of obesity in the development of Parkinson's disease (PD).
Background: Obesity has been reported to be both a risk factor for PD, as well as potentially protective. The Framingham Heart Study (FHS) is a multigenerational longitudinal cohort study that was started in 1948, which is well-known for its cardiovascular health studies.
Article Synopsis
- Cervical dystonia (CD) is a common neurological condition, with about one-third of patients also experiencing tremors in their head and hands, complicating diagnosis and treatment.
- Researchers analyzed data from over 3,100 CD patients across various continents using machine learning to identify clinical features predicting the presence and nature of neck tremor.
- Key findings revealed that increased severity of CD, longer disease duration, and older age were strong predictors of neck tremor, with notable differences in tremor characteristics based on gender and the involvement of other body parts.
Article Synopsis
- A large-scale genome-wide association study (GWAS) was conducted with over 6000 participants to investigate genetic risk factors for isolated dystonia, aiming to improve upon earlier studies that found no significant genetic links.
- The study included 4303 dystonia patients and 2362 healthy controls, analyzing various factors like age of onset and affected body areas, but ultimately failed to identify any common genetic variants associated with dystonia.
- The findings suggest that isolated dystonia may not be influenced by common genetic variations, highlighting the need for more extensive studies like whole-genome sequencing to uncover potential genetic contributions.
Article Synopsis
- The study investigates how the cytoskeletal protein Keratin 18 (Krt18) affects muscle adaptations after eccentric exercise, particularly noting differences between young and older muscles.
- Krt18 was found to be upregulated after eccentric contractions, with higher levels in young muscle compared to older muscle, leading researchers to explore its role in muscle adaptation.
- Results showed that the absence of Krt18 did not hinder muscle strength or adaptation to exercise, suggesting that Krt18 might not be essential for exercise-induced muscle remodeling, highlighting the complexity of molecular mechanisms in muscle plasticity.
Background: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.
Objectives: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
Background: Huntington's disease (HD) is a neurodegenerative disorder marked by cognitive impairment, movement abnormalities, and behavioral disturbances. The Stroop Color Word Test (SCWT) is a widely used tool to detect cognitive decline in HD. Variations in SCWT formats-horizontal (original) and vertical (Golden)-may influence performance, given HD's impact on cognitive and oculomotor abilities.
View Article and Find Full Text PDFBackground: Direct-to-participant online reporting facilitates the conduct of clinical research by increasing access and clinically meaningful patient engagement.
Objective: We assessed feasibility of online data collection from adults with diagnosed Huntington's disease (HD) who directly reported their problems and impact in their own words.
Methods: Data were collected online from consenting United States residents who self-identified as 1) having been diagnosed with Huntington's disease, 2) able to ambulate independently, and 3) self-sufficient for most daily needs.
Introduction: Deutetrabenazine is a vesicular monoamine transporter 2 inhibitor used to treat tardive dyskinesia (TD) and chorea associated with Huntington disease (HD). To enhance detection of safety signals across individual trials, integrated safety analyses of deutetrabenazine in TD and HD chorea were conducted.
Methods: For TD, safety data were integrated from two 12-week pivotal studies (ARM-TD and AIM-TD) and through week 15 of the open-label extension (OLE) study (RIM-TD).
An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia.
Mov Disord Clin Pract
December 2023
Background: There are several widely used clinical rating scales for documenting the severity and distribution of various types of dystonia.
Objectives: The goal of this study was to evaluate the performance of the most commonly used scales in a large group of adults with the most common types of isolated dystonia.
Methods: Global Dystonia Rating Scale (GDRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) scores were obtained for 3067 participants.
Deutetrabenazine (DTBZ) is used for the treatment of tardive dyskinesia (TD) and chorea in Huntington's Disease (HD). Four pivotal clinical trials showed the efficacy of DTBZ in these conditions. Long term follow-up studies confirmed evidence of overall safety and continued efficacy of this drug.
View Article and Find Full Text PDFBackground And Objectives: Cognitive decline is an important early sign in pre-motor manifest Huntington's disease (preHD) and is characterized by deficits across multiple domains including executive function, psychomotor processing speed, and memory retrieval. Prior work suggested that the Loewenstein-Acevedo Scale for Semantic Interference and Learning (LASSI-L)-a verbal learning task that simultaneously targets these domains - could capture early cognitive changes in preHD. The current study aimed to replicate, validate and further analyze the LASSI-L in preHD using larger datasets.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates the prevalence and severity of cognitive impairment in Huntington's disease (HD) using standardized criteria for neurocognitive disorder (NCD), revealing varying levels of impairment across different stages of the disease and among control groups.
- - Results show that the prevalence of mild NCD ranges from 8.8%-47.3% in premanifest and manifest HD populations, while major NCD prevalence is significantly higher in manifest HD (21.1%-57.7%) compared to premanifest stages.
- - Findings indicate a notable increase in cognitive decline before the formal diagnosis of HD, underscoring the need for enhanced clinical care and support services for affected individuals.
Background: Diagnosis of manifest Huntington disease (HD) is based primarily on motor symptoms, but premanifest HD (preHD) is often associated with subtle cognitive decline. The Loewenstein-Acevedo Scales for Semantic Interference and Learning (LASSI-L) is a validated verbal learning test that can be used to detect early cognitive decline.
Objective: To determine the utility of the LASSI-L for detecting early cognitive decline in individuals with preHD and to compare the results of the LASSI-L with those of commonly used neuropsychological tests in HD.
Death anxiety, represented by the HDQLIFE™ Concern with Death and Dying (CwDD) patient-reported outcome (PRO) questionnaire, captures a person's worry about the death and dying process. Previous work suggests that death anxiety remains an unremitting burden throughout all stages of Huntington disease (HD). Although palliative interventions have lessened death anxiety among people with advanced cancer, none has yet to undergo testing in the HD population.
View Article and Find Full Text PDFThe subspecialty of experimental neurotherapeutics trains neurologists in discovering and developing new treatments for neurologic diseases. Based on development of exciting new treatments for genetic and inflammatory diseases, we predict that there will be many other breakthroughs. The job market has expanded rapidly in academia, the pharmaceutical industry, government, and not-for-profit sectors; many new opportunities can be anticipated.
View Article and Find Full Text PDFBackground And Objectives: Huntington disease (HD) is a rare, inherited, and highly complex neurodegenerative disorder with no currently approved disease-modifying treatments. We investigated the effect of HD on health-related quality of life and other patient-reported outcomes in the Huntington's Disease Burden of Illness (HDBOI) study.
Methods: The HDBOI study is a retrospective, cross-sectional study conducted between September 2020 and May 2021 in France, Germany, Italy, Spain, the United Kingdom, and the United States.
Background And Purpose: The prevalence of Huntington disease (HD) has increased over time; however, there is a lack of up-to-date evidence documenting the economic burden of HD by disease stage. This study provides an estimate of the annual direct medical, nonmedical, and indirect costs associated with HD from participants in the Huntington's Disease Burden of Illness (HDBOI) study in five European countries and the USA.
Methods: The HDBOI is a retrospective, cross-sectional study.
Background: Deutetrabenazine is approved in the USA, China, Australia, Israel, Brazil, and South Korea for the treatment of chorea associated with Huntington disease.
Objective: We aimed to evaluate the long-term safety and tolerability of deutetrabenazine for the treatment of Huntington disease.
Methods: This open-label, single-arm, multi-center study included patients who completed a double-blind study (Rollover) and patients who converted overnight from a stable tetrabenazine dose (Switch).
Urinary tract infection (UTI) is a common precipitant of acute neurological deterioration in patients with Parkinson's disease (PD) and a leading cause of delirium, functional decline, falls, and hospitalization. Various clinical features of PD including autonomic dysfunction and altered urodynamics, frailty and cognitive impairment, and the need for bladder catheterization contribute to an increased risk of UTI. Sepsis due to UTI is a feared consequence of untreated or undertreated UTI and a leading cause of morbidity in PD.
View Article and Find Full Text PDFBackground: The dystonias are phenotypically and etiologically heterogenous disorders. Many proposals and a consensus recommendation have been provided for the diagnosis and classification of the dystonias, but these recommendations serve only as general guidelines. Current diagnosis and classification may still depend on clinical judgment causing different opinions.
View Article and Find Full Text PDFObjective: To determine the impact of percutaneous endoscopic gastrostomy (PEG) tubes in patients with advanced Huntington disease (HD).
Methods: A retrospective chart review of patients with HD was conducted to assess the rate of pneumonia and pressure ulcer, length of life, changes in weight, and serologic nutritional measures. Surviving and deceased patients with and without PEG tubes were compared using descriptive statistical analysis.
Background: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.
Objective: To identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome-wide approach.
Background And Purpose: Several clinical and demographic factors relate to anatomic spread of adult-onset isolated dystonia, but a predictive model is still lacking. The aims of this study were: (i) to develop and validate a predictive model of anatomic spread of adult-onset isolated dystonia; and (ii) to evaluate whether presence of tremor associated with dystonia influences model predictions of spread.
Methods: Adult-onset isolated dystonia participants with focal onset from the Dystonia Coalition Natural History Project database were included.