78 results about "Spinocerebellar ataxia" patented technology

This technology relates generally to compounds and methods for stimulating neurogenesis (e.g., post-natal neurogenesis, including post-natal hippocampal and hypothalamic neurogenesis) and/or protecting neuronal cell from cell death. Various compounds are disclosed herein. In vivo activity tests suggest that these compounds may have therapeutic benefits in neuropsychiatric and/or neurodegenerative diseases such as schizophrenia, major depression, bipolar disorder, normal aging, epilepsy, traumatic brain injury, post-traumatic stress disorder, Parkinson's disease, Alzheimer's disease, Down syndrome, spinocerebellar ataxia, amyotrophic lateral sclerosis, Huntington's disease, stroke, radiation therapy, chronic stress, abuse of a neuro-active drug, retinal degeneration, spinal cord injury, peripheral nerve injury, physiological weight loss associated with various conditions, as well as cognitive decline associated with normal aging, chemotherapy, and the like.

This technology relates generally to compounds and methods for stimulating neurogenesis (e.g., post-natal neurogenesis, including post-natal hippocampal and hypothalamic neurogenesis) and/or protecting neuronal cell from cell death. Various compounds are disclosed herein. In vivo activity tests suggest that these compounds may have therapeutic benefits in neuropsychiatric and/or neurodegenerative diseases such as schizophrenia, major depression, bipolar disorder, normal aging, epilepsy, traumatic brain injury, post-traumatic stress disorder, Parkinson's disease, Alzheimer's disease, Down syndrome, spinocerebellar ataxia, amyotrophic lateral sclerosis, Huntington's disease, stroke, radiation therapy, chronic stress, abuse of a neuro-active drug, retinal degeneration, spinal cord injury, peripheral nerve injury, physiological weight loss associated with various conditions, as well as cognitive decline associated with normal aging, chemotherapy, and the like.

The present invention relates to allelic variants of human Spinocerebellar ataxia 2 (SCA2) gene and provides allele-specific primers and probes suitable for detecting these allelic variants for applications such as molecular diagnosis, prediction of an individual's disease susceptibility, and/or the genetic analysis of SCA2 gene in a population.

The present invention provides diagnostic methods of identifying individuals at risk and not at risk of developing spinocerebellar ataxia type 7. The present invention also provides for methods for identifying expanded repeats, and the DNA flanking the expanded repeats, from genomic DNA.

The invention discloses a brain computer interface-based self-adaptive home environment control device and a control method thereof. The device comprises a visual stimulation screen, a brain electricity acquisition unit, a computer, a master controller and a slave controller. The device comprises two parts: brain control home appliances and a brain control wheelchair; the patients with severe paralysis (such as spinocerebellar ataxia, amyotrophic lateral sclerosis and the like) can realize indoor movement by using the wheelchair and realize the control of home appliances (such as a television, an air conditioner and an electric lamp) while sitting on the wheelchair. The device is stable in performance, and can be used for effectively improving the self-care ability and life quality of the severe paralyzed patients.

The invention relates to an identification method for a genetic disease-related gene, comprising the following steps: 1) obtaining a sample of DNA in genetic disease gene family; 2) carrying out preliminary positioning of chromosomes of related genes; 3) optionally, further carrying out accurate positioning and haplotype analysis of the chromosomes of the related genes; 4) according to chromosomal localization results, taking a certain amount of DNA samples and identifying the related genes with the technology of human genome exome sequencing. The invention also relates to an identification method for related genes of hereditary spinocerebellar ataxia and a kit for the analysis of the related genes of hereditary spinocerebellar ataxia.

Disclosed are methods for treating neurodegenerative diseases such as Amyotrophic Lateral Sclerosis, Alzheimer's Disease, Parkinson's Disease, Myasthenia Gravis, Multifocal Motor Neuropathy, Primary Lateral Sclerosis, Spinal Muscular Atrophy, Kennedy's Disease, and Spinocerebellar Ataxia, by administration of a compound that blocks the interaction of CD40 and CD40L.

The invention discloses a method for screening and identifying spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) molecular marker MicroRNAs (miRNAs) capable of regulating and controlling the expression of an ATXN3 gene. The method comprises the following steps: obtaining differential expression profile of miRNAs by using miRNA microarray chip technique; further screening and verifying by using a bioinformatics method and a qRT-PCR technique to obtain the miRNAs expressed by regulated ATXN3 gene; determining the target action relation and mechanism of action of the miRNAs and ATXN3 by using qRT-PCR technique and Westernblot; determining target action relation and specific binding site of the miR-25 and ATXN3 gene by using luciferase reporter gene detection technique so as to provide basis for researching and developing diagnostic kit related to SCA3/MJD disease.

The invention relates to an improved primer for detecting the dynamic mutation of a CAG repetitive sequence of a spinocerebellar ataxia ATXN3 gene and a method thereof, characterized in that a specially designed specific primer is adopted to amplify the amount of a DNA fragment containing the CAG repetitive sequence in the ATXN3 gene to the observable degree through a special PCR procedure, and gel electrophoresis is utilized to observe the size of a PCR amplification product fragment and estimate the number of replication of the CAG dynamic mutation in the ATXN3 gene. The invention has the advantages that: 1. simplicity and economy, and no sequence detection, i.e. the method can be operated in common molecular biology laboratories or control laboratories, thereby establishing a simple detection method of the amplification CAG repetitive sequence; 2. high sensitivity and reliability: 25ng genome DNA is enough to detect the number of replication of the CAG dynamic mutation in the ATXN3gene, thereby a reliable basis is provided for clinically diagnosing spinocerebellar ataxia.

Remedies for spinocerebellar degeneration or compositions for treating the same which contain as the active ingredient one or more members selected from among D-cycloserine, D-serine esters, D-serine and salts thereof. A method for treating spincerebellar degeneration which comprises administering to a patient with this disease in an efficacious dose of one or more members selected from among D-cycloserine, D-serine esters, D-serine and salts thereof.

Disclosed are methods for treating neurodegenerative diseases such as Amyotrophic Lateral Sclerosis, Alzheimer's Disease Parkinson's Disease, Myasthenia Gravis, Multifocal Motor Neuropathy, Primary Lateral Sclerosis, Spinal Muscular Atrophy, Kennedy's Disease, and Spinocerebellar Ataxia.

A compound of formula (I) or a salt thereof are provided:

wherein R¹, X and R³ are defined in the specification, useful in the treatment of disorders mediated by KMO such as acute pancreatitis, chronic kidney disease, other conditions associated with systemic inflammatory response syndrome (SIRS), Huntington's disease, Alzheimer's disease, spinocerebellar ataxias, Parkinson's disease, AIDS-dementia complex, amylotrophic lateral sclerosis (ALS), depression, schizophrenia, sepsis, cardiovascular shock, severe trauma, acute lung injury, acute respiratory distress syndrome, acute cholecystitis, severe burns, pneumonia, extensive surgical procedures, ischemic bowel, severe acute hepatic disease, severe acute hepatic encephalopathy or acute renal failure.

The present invention relates to antisense LNA oligonucleotides (oligomers) complementary to ATXN3 pre-mRNA sequences, which are capable of inhibiting the expression of ATXN3 protein. Inhibition of ATXN3 expression is beneficial for the treatment of spinocerebellar ataxia.

The accumulation of abnormal proteins in neurodegenerative disorders is considered to induce oxidative stress and lead to cell death. Thus suppression of abnormal protein aggregation and reducing oxidative stress or reactive oxygen species (ROS) are expected to inhibit a wide range of harmful downstream events, providing an observation for identifying the potential prevention and treatment of neurodegenerative disorders comprising spinocerebellar ataxia (SCA), Alzheimer's disease (AD) or Parkinson's disease (PD). In the present invention, there are several cell and animal experiment models for SCA, AD and PD established, and NiSOD-like compounds were applied to these experiment models. The results have demonstrated how NiSOD-like compounds are likely to work in suppressing abnormal protein aggregation and reducing oxidative stress; in addition, the results were also confirmed with brain slice culture of SCA17 transgenic mice and AD mice, brain tissues immunostaining of PD mice, and SCA17 transgenic, AD and PD mice.

The invention provides a dearylated isopentenyl acylphloroglucinol derivative, a preparation method thereof, a pharmaceutical composition for neurodegenerative diseases and an application of the pharmaceutical composition, and belongs to the technical field of medicines. The compound Hypatone A provided by the invention has a new rare cage structure, is the strongest Cav3.1 low-voltage gated calcium ion channel activator at present, and has potential medicinal value in Alzheimer's disease and spinal cerebellar ataxia 42.

The present invention relates to compounds of general formula I wherein R¹, R², R³ and R⁴ are as defined herein which maybe used for the treatment of schizophrenia, obsessive-compulsive

personality disorder, major depression, bipolar disorders, anxiety disorders, normal aging, epilepsy, retinal degeneration, traumatic brain injury, spinal cord injury, post-traumatic stress disorder, panic disorder, Parkinson's disease, dementia, Alzheimer's disease, cognitive impairment, chemotherapy-induced cognitive dysfunction (“chemobrain”), Down syndrome, autism spectrum disorders, hearing loss, tinnitus, spinocerebellar ataxia, amyotrophic lateral sclerosis, multiple sclerosis, Huntington's disease, stroke, and disturbances due to radiation therapy, chronic stress, optic neuropathy or macular degeneration, or abuse of neuro-active drugs, selected from alcohol, opiates, methamphetamine, phencyclidine and cocaine.

This invention provide to a pharmaceutical composition for treating spinocerebellar ataxia (or atrophy, degeneration) or multiple system atrophy, or for improving ataxia or equilibrium disturbance comprising a compound of the formula (I):

wherein R is methyl, cyano or carbamoyl, a pharmaceutically acceptable salt, or a solvate thereof as an active ingredient.

A method for inhibiting spinocerebellar ataxia is disclosed, which comprises: administering an extract of Paeonia lactiflora to a subject in need; wherein a concentration of the extract of Paeonia lactiflora is in the range from 1 μg/mL to 80 μg/mL.

The invention discloses a new medical application of senkyunolide I (SEI), namely application of SEI in preparation of medicaments for treating central nervous system neurodegenerative diseases. The inventor researches the inflammatory reaction inhibiting effect and a possible molecular mechanism of SEI by use of a microglial cell BV-2 cell line in-vitro oxygen glucose deprivation/oxygen-glucose reintroduction inducing activation model; subsequent embodiments and pharmacological research results indicate that SEI is capable of concentration-dependently inhibiting activation of microglial cell IKK/IkBalpha/NF-kB inflammation signal paths induced by oxygen glucose deprivation/oxygen-glucose reintroduction, the neural anti-inflammatory activity points to treatment of central nervous system neurodegenerative diseases relevant to the inflammation signal paths, and especially can be used for effectively preparing medicaments for treating multiple sclerosis, spinocerebellar ataxia and Pick diseases.

Provided are compounds, methods, and pharmaceutical compositions for reducing the amount or activity of ATXN3 RNA in a cell or animal, and in certain embodiments reducing the amount of ATXN3 protein in a cell or animal. Such compounds, methods, and pharmaceutical compositions are useful to ameliorate at least one symptom or hallmark of a neurodegenerative disease. Such symptoms and hallmarks include motor dysfunction, aggregation formation, and neuron death. Such neurodegenerative diseases include spinocerebellar ataxia type 3 (SCA3).