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The study is a single, cross-sectional cognitive interview of FuRST 2.0 ,functional rating scale, administered to Huntington's Disease Gene Expansion Carriers (HDGECs). The scale will be tested as a patient reported outcome (PRO) in that the information will come directly from the participant through self-report. The purpose is to identify real or potential comprehension or usage problems with scale items, response options, instructions and disclaimer statement, which are all components of the FuRST 2.0 scale. Through a structured cognitive interview with the participants, followed by qualitative analysis, the final phrasing of the individual scale items, response options, instructions and disclaimer statement for the scale will be generated. Depending on the results of this study, additional rounds of cognitive pre-testing may be required.
Rocky Mountain Movement Disorders Center, P.C.
Not yet recruiting
CHDI Foundation, Inc.
Published on BioPortfolio: 2018-10-23T13:47:13-0400
The FuRST 2.0 scale is being developed as a Patient Reported Outcome (PRO) with information coming directly from the Huntington's Disease Gene Expansion Carrier (HDGEC) and companion throu...
The purpose of this trial is to study early brain and behavioral changes in people who have the gene expansion for Huntington's disease, but are currently healthy and have no symptoms.
The principal means of measuring motor impairment in Huntington disease (HD) is the Unified Huntington's Disease Rating Scale (UHDRS) total motor score, which is subjective, categorical, r...
This study is being conducted to determine the safety and tolerability of Dimebon in people with Huntington's disease after short-term exposure (one week) and after longer exposure (three ...
The purpose of this study is to know the limits of feasibility of a reliable oculomotor record for patient with Huntington's disease.
Clinical care for Huntington's disease (HD) is often provided in experienced centers that provide multidisciplinary care. However, the value of these centers and their uptake by HD families remain unk...
In this edition of the Huntington's Disease Clinical Trials Corner we expand on the HD-DBS and on the TRIHEP3 trials, and we list all currently registered and ongoing clinical trials in Huntington's d...
Parkinson's disease (PD) and Huntington's disease (HD) are two neurodegenerative diseases affecting frontal-striatal function and memory ability. Studies using the original California Verbal Learning ...
Huntington's disease (HD) is a progressive neurodegenerative disorder that prominently affects the basal ganglia, leading to affective, cognitive, behavioral, and motor decline. The primary site of ne...
Huntington's disease (HD) is a genetic disorder known for affecting motor control. Despite evidence for the impact of HD on visual cortico-striatal loops, evidence for impaired visual perceptual in ea...
A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION, POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER DISEASE; PARKINSON DISEASE; HUNTINGTON DISEASE; and TYPE 2 DIABETES MELLITUS.
Membrane glycosylphosphatidylinositol-anchored glycoproteins that may aggregate into rod-like structures. The prion protein (PRNP) gene is characterized by five TANDEM REPEAT SEQUENCES that encode a highly unstable protein region of five octapeptide repeats. Mutations in the repeat region and elsewhere in this gene are associated with CREUTZFELDT-JAKOB DISEASE; FATAL FAMILIAL INSOMNIA; GERSTMANN-STRAUSSLER DISEASE; Huntington disease-like 1, and KURU.
A phenyl-piperidinyl-butyrophenone that is used primarily to treat SCHIZOPHRENIA and other PSYCHOSES. It is also used in schizoaffective disorder, DELUSIONAL DISORDERS, ballism, and TOURETTE SYNDROME (a drug of choice) and occasionally as adjunctive therapy in MENTAL RETARDATION and the chorea of HUNTINGTON DISEASE. It is a potent antiemetic and is used in the treatment of intractable HICCUPS. (From AMA Drug Evaluations Annual, 1994, p279)
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
A protein that is highly expressed in the nervous system as well as other tissues; its size and structure vary due to polymorphisms. Expanded CAG TRINUCLEOTIDE REPEATS have been identified in the Huntingtin (HD) Gene of patients with HUNTINGTON DISEASE and are associated with abnormal PROTEIN AGGREGATES. Huntingtin interacts with proteins involved in a variety of gene expression and cellular processes; it is also essential for embryonic development.
Huntington's disease is a hereditary disease caused by a defect in a single gene on Chromosome 4 that is inherited in an autosomal dominant fashion. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...