... clinical seizures, and behavioral and cognitive functions in girls with Rettsyndrome.We used a prospective randomized, open-label trial in fast ... examine the effect of dextromethorphan on core clinical features of Rettsyndrome... The RettSyndrome Severity Scale provided a clinical global impression of the effect ... for use in 3- to 15-year-old girls with Rettsyndrome.
AbstractText: Worldwide prevalence estimates of Huntingtondisease (HD) vary widely, with no reliable information regarding the Jewish ... from symptom onset to diagnosis, gender, years of education, Unified HuntingtonDisease Rating Scale scores, or the Montreal Cognitive Assessment scores AbstractText ... relatively small subpopulations of Jews: Mountain Jews and Karaites Keyword: Huntingtondisease.
The purpose of this study was to inform the design of randomized clinical trials in early-stage manifest Huntington'sdisease through analysis of longitudinal data from TRACK-Huntington'sDisease (TRACK-HD), a multicenter observational study.We compute sample sizes required for trials with candidate clinical, functional, and imaging outcomes, whose ...
Neurological and Central Nervous System Diseases (3) Huntington Disease (3), Atrophy (2), Movement Disorders (1), more mentions
... To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonicdystrophy types 1 (DM1) and 2 (DM2) AbstractText: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 ...
Gastrointestinal Diseases (1), Anti-Obesity and Weight Loss (1) Myotonic Dystrophy (2), Gastroesophageal Reflux (1), more mentions
... p13.3) (n = 1), and non-genetic etiologies (n = 3) were also identified.We have classified the final 54 diagnoses in 11 distinctive biochemical profiles and described them through 20 clinical features. To identify the specific molecular cause of abnormal NT profiles, (targeted) genomics might be used, to improve diagnosis and allow early treatment of complex and rare neurologicalgenetic diseases.
Abstract: The MyotonicDystrophy Health Index (MDHI) is a disease-specific, self-reported outcome ... measure that assesses total disease burden and 17 areas of MyotonicDystrophy type 1 (DM1) specific health... to measure the multi-dimensional aspects of disease burden in MyotonicDystrophy clinical trials Keyword: Italian validation... Keyword: MyotonicDystrophy Health Index.
Muscular and Skeletal Diseases (1) Myotonic Dystrophy (6), Muscular Dystrophies (1), more mentions
... by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonicdystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTG⋅CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and poly-(QAGR) RAN proteins, respectively.
Chloride conductance disturbances contribute to sarcolemmal dysfunction in type 1 (DM1) and 2 (DM2) myotonicdystrophy. Studies using muscle velocity recovery cycles (MVRCs) suggest Na(+) /K(+) -ATPase activation becomes defective in advanced DM1. We used MVRCs to investigate muscle excitability in DM1 and DM2.MVRCs were measured for patients with mild (n = 8) and advanced DM1 (n = 11), DM2 (n ...
... related to aging and disease may preferentially affect the left-usually language- and motor-dominant-hemisphere. Here, we used activation likelihood estimation meta-analysis to assess gray matter (GM) loss and its lateralization in healthy aging and in neurodegeneration, namely, mild cognitive impairment (MCI), Alzheimer's dementia (AD), Parkinson's disease (PD), and Huntington'sdisease (HD... Keyword: Huntington'sdisease. Keyword: Parkinson's disease.
Neurological and Central Nervous System Diseases (5), Neuroscience (3) Parkinson Disease (2), Huntington Disease (2), Dementia (2), more mentions
Laquinimod is in clinical development for the treatment of multiple sclerosis and HuntingtonDisease (HD. The objective of this study is to assess the safety, tolerability, pharmacokinetics (PK) and cytoimmunologic effects following escalating doses of laquinimod in patients with RRMS AbstractText: One hundred twelve patients were randomly assigned to laquinimod/placebo in a series of separate dose-escalating cohorts starting ...
Immune System Diseases (3) Multiple Sclerosis (2), Huntington Disease (1), Relapsing-Remitting Multiple Sclerosis (1), more mentions
Abstract: Adaptive learning impairments are common in cognitive and behavioral disorders, but the neurogenetic mechanisms supporting human affective learning are poorly understood. We designed a higher-order contextual learning task in which healthy participants genotyped for the Val(66)Met polymorphism of the brain derived neurotropic factor gene (BDNF) were required to choose the member of a picture pair most ...
AbstractText: Over the past years, positron emission tomography (PET) imaging studies have investigated striatal molecular changes in premanifest and manifest Huntington'sdisease (HD) gene expansion carriers (HDGECs), but they have yielded inconsistent results AbstractText: To systematically examine the evidence of striatal molecular alterations in manifest ... Keyword: huntington’sdisease gene carriers.
Neurological and Central Nervous System Diseases (1) Huntington Disease (1), more mentions
AbstractText: Malalignment of the ankle joint has been found after trauma, by neurological disorders, genetic predisposition and other unidentified factors, and results in asymmetrical joint loading. For a medial open wedge supramalleolar osteotomy(SMO), there are some debates as to whether concurrent fibular osteotomy should be performed. We assessed the changes in motion of ankle joint and plantar pressure after ...
Muscular and Skeletal Diseases (1) Osteoarthritis (2), Nervous System Diseases (1), more mentions