Abstract: Introduction Sensory impairment in Friedreich'sataxia (FRDA) is generally accepted as being due to a ganglionopathy... All rights reserved Keyword: Friedreich'sataxia. Keyword: cross-sectional area. Keyword: nerve ultrasound. Keyword: peripheral nerves. Keyword: sensory neuropathy.
Significant within-group improvements in the FriedreichAtaxia Impact Scale and the motor domain of the Functional Independence ... rehabilitation can improve health and well-being in individuals with Friedreich'sataxia; however, a larger study is required to have sufficient power ... function, the motor domain of the Functional Independence Measure Keyword: Friedreich’sataxia.
Friedreich Ataxia (8), Ataxia (1), Spinocerebellar Ataxias (1), more mentions
Abstract: Huntington'sdisease (HD) is an incurable, neurodegenerative disease, which manifests via a triad of progressive symptoms: motor impairment, psychiatric disorders, and cognitive decline... Keyword: Huntington’sdisease. Keyword: Premotor phase.
Neurological and Central Nervous System Diseases (2), Neuroscience (1) Huntington Disease (2), Chorea (1), Psychotic Disorders (1), more mentions
Abstract: Friedreich'sataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene... Keyword: Friedreich'sataxia. Keyword: RNA sequencing. Keyword: Solute carriers. Keyword: Translation.
Friedreich Ataxia (3), Neurodegenerative Diseases (1), more mentions
Abstract: Huntingtondisease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate... Keyword: HuntingtonDisease. Keyword: epidemiology. Keyword: founder effect. Keyword: geographic clustering. Keyword: incidence. Keyword: prevalence.
... whilst walking might be associated with poorer balance and a higher risk of falling in individuals with symptomatic Huntington'sdisease (symp-HD... in symp-HD AbstractText: These findings could aid clinicians in better managing risk of falls in people with Huntington'sdisease through targeted and effective strategies Keyword: Huntington’sdisease.
Neurological and Central Nervous System Diseases (3) Huntington Disease (3), Neurodegenerative Diseases (1), more mentions
AbstractText: Classic RettSyndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life AbstractText: To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone ...
Muscular and Skeletal Diseases (3) Rett Syndrome (2), Chronic Pain (1), more mentions
Abstract: Oral deutetrabenazine (Austedo™), a reversible inhibitor of vesicular monoamine transporter type 2 (VMAT2) that is structurally related to tetrabenazine is approved for the treatment of chorea symptoms associated with Huntington'sdisease (HD. In the pivotal 12-week phase III FIRST-HD trial (n = 90), deutetrabenazine, at doses titrated for optimal chorea control and tolerability (maintenance dosage range 12-48 ...
Neurological and Central Nervous System Diseases (2) Chorea (6), Huntington Disease (2), more mentions
... views of people who live with the inevitability of developing Huntington'sdisease, a genetically transmitted disease which significantly limits life, on assisted ... five women and two men) who were gene positive for Huntington'sdisease took part in the study AbstractText: Four themes were extracted ... kindness in assisted dying: the importance of moral principles; (2) Huntington'sdisease threatens life and emphasises issues relating to death; (3) dilemmas ...
Neurological and Central Nervous System Diseases (7) Huntington Disease (8), Neurodegenerative Diseases (1), more mentions
Because the end result of Huntingtondisease is death due to Huntingtondisease-related causes, there is a need for better understanding and ... to evaluate important aspects of end of life planning for Huntingtondisease... AbstractText: Participants included 508 individuals with pre-manifest or manifest Huntingtondisease AbstractText: Item response theory supported the retention of all 16 items on the huntingtondisease quality of life ("HDQLIFE") end of life planning measure ...
Huntington Disease (8), Neurodegenerative Diseases (1), more mentions
Abstract: Accumulating evidence highlights the potential role of mixed proteinopathies (i.e., abnormal protein aggregation) in the development of clinical manifestations of neurodegenerative diseases (NDD. Huntington'sdisease (HD) is an inherited NDD caused by autosomal-dominant expanded CAG trinucleotide repeat mutation in the gene coding for Huntingtin (Htt... Keyword: Huntington’sdisease. Keyword: Proteinopathy.
Neurological and Central Nervous System Diseases (2) Huntington Disease (2), TDP-43 Proteinopathies (1), Neurodegenerative Diseases (1), more mentions
AbstractText: Motor disturbances are clinical hallmarks of Huntington'sdisease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction... Keyword: Huntington'sdisease. Keyword: Motor cortex. Keyword: Structural MRI.
Neurological and Central Nervous System Diseases (5) Chorea (5), Huntington Disease (3), Dystonia (2), more mentions
AbstractText: Preclinical data have shown that rilmenidine can regulate autophagy in models of Huntington'sdisease (HD), providing a potential route to alter the disease course in patients. Consequently, a 2-year open-label study examining the tolerability and feasibility of rilmenidine in mild-moderate HD was undertaken. 18 non-demented patients with mild to moderate HD took daily doses of ...
Neuroscience (3), Neurological and Central Nervous System Diseases (2) Huntington Disease (2), Neurodegenerative Diseases (1), more mentions
... metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases. The present review discusses the most important neurometabolic disorders presenting with motor neuron (lower and/or upper) dysfunction as the key clinical and neuropathological feature Keyword: Amyotrophic lateral sclerosis. Keyword: Inborn errors of metabolism. Keyword: Motor neuron disease. Keyword: Neurogenetics. Keyword: Neurometabolic disorders.
Neurological and Central Nervous System Diseases (2) Inborn Metabolism Errors (3), Motor Neuron Disease (3), Amyotrophic Lateral Sclerosis (2), more mentions
... motor neurons of ALS patients with C9orf72 repeat expansions, implicating hnRNPA3 in the pathogenesis of C9orf72-linked ALS. hnRNPA3 warrants further investigation into the pathogenesis of ALS linked to C9orf72. This study also determined that HNRNP mutations are not a common cause of FALS and SALS in Australia Keyword: Amyotrophic lateral sclerosis. Keyword: Heterogeneous nuclear ribonucleoproteins. Keyword: Neurogenetics. Keyword: Neuropathology.
Neurological and Central Nervous System Diseases (15), Neuroscience (2) Amyotrophic Lateral Sclerosis (15), Frontotemporal Dementia (2), more mentions
AbstractText: To identify an improved measure of clinical progression in early Huntingtondisease (HD) using data from prospective observational cohort studies and placebo group data from randomized double-blind clinical trials AbstractText: We studied Unified HuntingtonDisease Rating Scale (UHDRS) and non-UHDRS clinical measures and brain measures of progressive ...
Analysis of matched non-enhancing tissue from 12 patients revealed overlapping as well as novel putatively actionable genomic alterations AbstractText: Use of genome-wide molecular profiling is feasible and can be informative for guiding real-time, central nervoussystem (CNS)-penetrant, genomics-informed treatment recommendations for patients with recurrent glioblastoma.
AbstractText: 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder whose phenotype includes high rates of a schizophrenia-like psychotic disorder and immune system abnormalities. Thus, 22q11.2DS is an ideal model for studying the relationship between psychosis and inflammation. The aim of the present study was to identify inflammatory markers that may play a role in the pathophysiologic pathways associated with ...