A Chinese Han pedigree with Huntington disease mimicking spinocerebellar ataxia

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive chorea, dystonia, and cognitive and psychiatric decline. It is caused by the expansion of CAG trinucleotide repeats in exon 1 of huntingtin (HTT) [1], with 36 –39 repeats associated with reduced penetrance and ≥40 with full penetrance.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research

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Conclusion: Initial phase-I and -II studies tested the safety and feasibility of gene therapy in PD, HD, and AADC deficiency. The ongoing generation of clinical trials aims to test the efficacy of these approaches and explore additional applications for gene therapy in movement disorders.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
ička E, Klempíř J, Rusz J Abstract OBJECTIVE: Voice tremor represents a common but frequently overlooked clinical feature of neurological disease. Therefore, we aimed to quantitatively and objectively assess the characteristics of voice tremor in a large sample of patients with various progressive neurological diseases. METHODS: Voice samples were acquired from 240 patients with neurological disease and 40 healthy controls. The robust automated method was designed, allowing precise tracking of multiple tremor frequencies and distinguish pathological from the physiological tremor. RESULTS: Abnor...
Source: Clinical Neurophysiology - Category: Neurology Authors: Tags: Clin Neurophysiol Source Type: research
This article reviews scales that have been developed for, validated in, and/or frequently used across multiple movement disorders with a focus on assessment of motor and nonmotor symptoms of Parkinson disease. Rating scales used in other disease states include those for essential tremor, dystonia (generalized dystonia, cervical dystonia, and blepharospasm), Tourette syndrome, Huntington disease, tardive dyskinesia, Wilson disease, ataxia, and functional movement disorders. Key features of each scale as well as cited criticisms and limitations of each scale are also discussed. Lastly, the article briefly discusses the emerg...
Source: Neurologic Clinics - Category: Neurology Authors: Source Type: research
CONCLUSIONS: All patients reported a communication complaint, attested by the DIP scores, despite the fact that not all patients, notably PD, ataxic, and PSP patients, had an intelligibility deficit. The DIP should be used in clinical practice to contribute to a holistic evaluation and management of functional communication in patients with dysarthria. PMID: 31112944 [PubMed - as supplied by publisher]
Source: Neuro-Degenerative Diseases - Category: Neurology Authors: Tags: Neurodegener Dis Source Type: research
ConclusionsDifferent patterns of sleep disturbances are observed in HD patients: insomnia, difficulties in falling asleep, frequent nocturnal awakenings, and excessive daytime sleepiness are the most common sleep problems reported by patients with HD. In several HD studies, specific changes in sleep architecture and in circadian melatonin secretion were identified in laboratory testing.Sleep disorders in HD have diverse and complex determinants, the most significant of which includes damage to brain areas that are responsible for the proper sleep pattern and circadian rhythm regulation. Sleep and circadian rhythm disorders...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Abstract Huntington's disease (HD) is an autosomal neurodegenerative disease characterized by chorea, dystonia, motor ataxia, cognitive decline and psychiatric disorders with gradual loss of nerve cells and has no existing cure for the disease. In the present study, a mitochondrial toxin, 3-nitropropionic acid (3-NP) is used to induce HD like symptoms in rats. Tetramethylpyrazine is one of the active ingredients of Chuan Xiong which was reported to have neurotrophic and neuroprotective activities. The present study was designed to evaluate the role of TMP on 3-NP induced behavioral, biochemical, neurochemical, and...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - Category: Drugs & Pharmacology Authors: Tags: Biomed Pharmacother Source Type: research
Source: Movement Disorders - Category: Neurology Tags: Abstract Source Type: research
Source: Movement Disorders - Category: Neurology Tags: Abstract Source Type: research
This study shows that loss of cortical Drd1a-expressing cells is sufficient to produce deficits in multiple motor and behavioral domains, independent of striatal mechanisms. Primary cortical changes in the D1 dopamine receptor compartment are therefore likely to model a number of core clinical features in disorders such as Huntington disease and schizophrenia. PMID: 25684539 [PubMed - as supplied by publisher]
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
ABSTRACT There is growing interest in the therapeutic potential of marijuana (cannabis) and cannabinoid‐based chemicals within the medical community and, particularly, for neurological conditions. This interest is driven both by changes in the legal status of cannabis in many areas and increasing research into the roles of endocannabinoids within the central nervous system and their potential as symptomatic and/or neuroprotective therapies. We review basic science as well as preclinical and clinical studies on the therapeutic potential of cannabinoids specifically as it relates to movement disorders. The pharmacology of ...
Source: Movement Disorders - Category: Neurology Authors: Tags: Review Source Type: research
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