Publications by authors named "Jeanne S Feuerstein"
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
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.
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: 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.
Purpose: Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia that occurs during REM sleep, characterized by REM sleep without atonia (RSWA) and dream enactment behavior (DEB). RBD is associated with several diseases and medications but most notably is a prodromal feature of synucleinopathies, including Parkinson's disease (PD). This article reviews RBD, its treatments, and implications for PD therapeutics.
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- The study aimed to better understand blepharospasm, a type of dystonia, by examining its various clinical features through a systematic literature review and analyzing a larger cohort of patients.
- Findings revealed that blepharospasm typically appears in women during their 50s and can involve both motor symptoms like increased blinking as well as non-motor symptoms such as eye discomfort and psychiatric issues like anxiety and depression.
- The research also noted that a significant number of patients experienced the spread of dystonia to other body regions, with various factors such as symptom severity and family history contributing to this spread.
Article Synopsis
- This study aimed to evaluate whether specific executive function tests can serve as reliable markers for individuals with premanifest Huntington's disease (HD).
- Fifteen premanifest HD participants were compared to 42 control subjects using the NIH EXAMINER battery, revealing significantly lower working memory scores in the HD group, along with correlations between executive scores and disease indicators.
- Findings suggest that the overall executive function composite and working memory scores are effective in indicating cognitive deficits and disease progression in premanifest HD patients.
The authors present a review of spinal cord blood supply, discussing the anatomy of the vascular system and physiological aspects of blood flow regulation in normal and injured spinal cords. Unique anatomical functional properties of vessels and blood supply determine the susceptibility of the spinal cord to damage, especially ischemia. Spinal cord injury (SCI), for example, complicating thoracoabdominal aortic aneurysm repair is associated with ischemic trauma.
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