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78 results about "Spinocerebellar ataxia" patented technology
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Spinocerebellar ataxia (SCA), progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
Pro-neurogenic compounds
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.
Owner:BOARD OF RGT THE UNIV OF TEXAS SYST
Methods for treating Parkinson's disease using pro-neurogenic compounds
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.
Owner:BOARD OF RGT THE UNIV OF TEXAS SYST
Method of detection of allelic variants of SCA2 gene
InactiveUS6623927B1Reduce riskHigh riskSugar derivativesMicrobiological testing/measurementMolecular diagnosticsGenetic analysis
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.
Owner:COUNCIL OF SCI & IND RES
SCA7 gene and methods of use
InactiveUS7118893B2Reduce temperature change rateReduce temperature changesSugar derivativesMicrobiological testing/measurementGenomic DNAGenome
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.
Owner:RGT UNIV OF MINNESOTA
Brain computer interface-based self-adaptive home environment control device and control method thereof
ActiveCN106020470AEasy to useImprove the quality of lifeProgramme controlInput/output for user-computer interactionLife qualityBrain computer interfacing
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.
Owner:华南脑控(广东)智能科技有限公司
Identification method for genetic disease-related gene
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.
Owner:BGI SHENZHEN CO LTD +1
Method for the treatment of neurodegenerative diseases
ActiveUS8435514B2Nervous disorderMuscular disorderSpinal muscular atrophiesMultifocal motor neuropathy
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.
Owner:ALS THERAPY DEV INST
2-substituted amino-naphth (1,2-d) imidazol-5-one compounds or pharmaceutically acceptable salts thereof
ActiveUS20190330159A1Avoid cell deathNervous disorderOrganic chemistryObstructive Pulmonary DiseasesMitophagy
Provided herein are therapeutic and / or prophylactic compounds for mitochondrial or oxidative stress diseases such as cancer, amyotrophic lateral sclerosis, Creutzfeldt-Jakob disease, Machado-Joseph disease, spinocerebellar ataxia, Huntington disease, Parkinson disease, Alzheimer disease, myocardial infarction, cerebral infarction, diseases related to aging, diabetes, alcoholic liver injury, chronic obstructive pulmonary disease, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), and the like, wherein the compound is represented by formula (1), or reduced forms thereof, or pharmaceutically acceptable salts thereof.
Owner:PTC THERAPEUTICS INC
Method for screening and identifying spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) molecular marker MicroRNAs (miRNAs) capable of regulating and controlling expression of ATXN3 gene
InactiveCN103343167AMicrobiological testing/measurementDNA/RNA fragmentationBinding siteMirna microarray
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.
Owner:XIANGYA HOSPITAL CENT SOUTH UNIV
Primer for detecting dynamic mutation of CAG repetitive sequence of ATXN3 gene and PCR amplification method thereof
InactiveCN101654711AStrong specificityImprove efficiencyMicrobiological testing/measurementDNA/RNA fragmentationCerebellar ataxiaDynamic equation
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.
Owner:SUZHOU UNIV
Remedies for spinocerebellar ataxia and compositions for treating spinocerebellar ataxia
InactiveUS7067545B1Reduce in quantityBiocideNervous disorderSpinocerebellar DegenerationsBULK ACTIVE INGREDIENT
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.
Owner:MEIJI SEIKA KAISHA LTD
Detection kit for CAG trinucleotide duplication mutation of SCA (Spinocerebellar Ataxia) pathogenic genes
InactiveCN106282367ALow costEasy to detectMicrobiological testing/measurementCapillary electrophoresisMutation detection
The invention performs genetic diagnosis on common SCA subtypes 1, 2, 3, 6, 7, 8, 17 and DRPLA of Chinese population by using a method of agarose gel electrophoresis, capillary electrophoresis and T carrier clone sequencing. Mutation detection on the CAG trinucleotide duplication mutation of the SCA pathogenic genes comprises three parts: firstly, performing the agarose gel electrophoresis on a DNA sample of a patient, and performing preliminary diagnosis; secondly, performing the capillary electrophoresis on the DNA sample of the patient to determine times of the CAG trinucleotide duplication mutation, and performing further diagnosis; thirdly, performing the T carrier clone sequencing on corresponding subtypes of the sample which is diagnosed to be sicken in the above steps, so as to determine internal structures of the pathogenic genes, and finally confirming diagnosis.
Owner:XIANGYA HOSPITAL CENT SOUTH UNIV
Method for the treatment of neurodegenerative diseases
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.
Owner:ALS THERAPY DEV INST
3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors
InactiveUS20160318884A1Antibacterial agentsOrganic active ingredientsAIDS dementia complexNeonatal respiratory distress syndrome
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.
![3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors](https://images-eureka-patsnap-com.libproxy1.nus.edu.sg/patent_img/41458c72-594e-4502-b3f4-2bd465aa0ad6/US20160318884A1-20161103-C00001.PNG "3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors")
![3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors](https://images-eureka-patsnap-com.libproxy1.nus.edu.sg/patent_img/41458c72-594e-4502-b3f4-2bd465aa0ad6/US20160318884A1-20161103-C00002.PNG "3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors")
![3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors](https://images-eureka-patsnap-com.libproxy1.nus.edu.sg/patent_img/41458c72-594e-4502-b3f4-2bd465aa0ad6/US20160318884A1-20161103-C00003.PNG "3-(5-chloro-2-oxobenzo[d]oxazol-3(2H)-yl) propanoic acid derivatives as kmo inhibitors")
Owner:GLAXOSMITHKLINE INTPROP DEV LTD
Spinocerebellar ataxia type 8 and methods of detection
The present invention provides an isolated nucleic acid molecule containing a repeat region of an isolated spinocerebellar ataxia type 8 (SCA8) coding sequence, the coding sequence located within the long arm of chromosome 13, and the complement of the nucleic acid molecule. Diagnostic methods based on identification of this repeat region are also provided.
Owner:RGT UNIV OF MINNESOTA
Antisense oligonucleotides targeting atxn3
ActiveUS20200385727A1Enhance pharmacologyImproved pharmacokinetic propertiesOrganic active ingredientsNervous disorderCereblonOligomer
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.
Owner:F HOFFMANN LA ROCHE & CO AG
Compositions and methods for treating spinocerebellar ataxia
Owner:SEELOS THERAPEUTICS INC
Agent for preventing or treating spinocerebellar ataxia
ActiveUS20160252530A1Preventing spinocerebellar ataxiaOrganic active ingredientsNervous disorderXRCC3Cereblon
To provide a compound which enables treatment or prevention of spinocerebellar ataxia, analyses were carried out based on a screening using a spinocerebellar ataxia type 1 (SCA1) fly model and on the like. As a result, the following proteins ameliorating the pathology of spinocerebellar ataxia were identified: RPA1, PNKP, XRCC3, XRCC4, CCNH, POLE, POLH, and PERI. On the other hand, the following proteins aggravating the pathology were identified: CHK1, LIG3, FEN1, LIG1, ERCC5, XAB2, ERCC2, DMC1, RECQL5, MUS81, EME1, SPO11, and BLM. In addition, it has been revealed that ATXN1, which is a cause of SCA1, binds to RPA1, BRCA1, and BRCA2, and suppresses the activities of these proteins, so that the above-described pathology is caused.
Owner:NAT UNIV CORP TOKYO MEDICAL & DENTAL UNIV
Nisod-like compound and its derivatives for the prevention and treatment of neurodegenerative disorders
ActiveUS20150209370A1Suppress abnormal protein aggregationRelieve pressureOrganic active ingredientsNervous disorderAlzheimer SyndromeBrains tissue
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.
Owner:NATIONAL TAIWAN NORMAL UNIVERSITY
Spinocerebellar ataxia type 8 and methods of detection
Owner:RGT UNIV OF MINNESOTA
Acylphloroglucinol derivative as well as pharmaceutical composition and application thereof
ActiveCN111170967APotential clinical application valueSignificant and potent activating activityOrganic active ingredientsNervous disorderCerebellar ataxiaIonic Channels
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.
Owner:KUNMING INST OF BOTANY - CHINESE ACAD OF SCI
Compositions and methods for spinocerebellar ataxia
ActiveUS20060292604A1Sugar derivativesMicrobiological testing/measurementEtiologyAutosomal dominant cerebellar ataxia
The autosomal dominant spinocerebellar ataxias (SCAs) represent a growing and heterogeneous clinical phenotype with ongoing discovery of causative etiologies. Methods: The authors collected DNA and clinically characterized a three-generation Filipino family segregating a dominant ataxia. Following elimination of several known SCA loci, a genome-wide linkage study was undertaken with additional fine mapping of 19q13. Results: Clinical characterization of affected family members revealed cerebellar signs including gait ataxia, limb ataxia / dysmetria, titubation, hypotonia, dysarthria, and nystagmus. Linkage was found in a ˜4 cM region of 19q13 bounded by markers D19S867 and D19S553, with a maximum LOD score of 3.89 at markers D19S904, D19S246, and D19S907. This region overlaps with, though markedly reduces the previously described SCA13 locus. Conclusion: An autosomal dominant cerebellar ataxia clinically distinguishable from SCA13 overlaps with the SCA13 locus on chromosome 19q13.3.
Owner:CEDARS SINAI MEDICAL CENT
Compositions and methods for spinocerebellar ataxia
ActiveUS7585629B2Sugar derivativesMicrobiological testing/measurementEtiologyAutosomal dominant cerebellar ataxia
Owner:CEDARS SINAI MEDICAL CENT
1,7-naphthyridine derivatives
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-compulsivepersonality 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.
Owner:F HOFFMANN LA ROCHE & CO AG
Pharmaceutical Composition for Treating Spinocerebellar Ataxia
ActiveUS20080027116A1Use of compositionImproving ataxia or equilibrium disturbanceBiocideOrganic active ingredientsAtrophyBULK ACTIVE INGREDIENT
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.
Owner:SHIONOGI & CO LTD
Method for Inhibiting Spinocerebellar Ataxia
InactiveUS20140249095A1Promote absorptionReduce deliveryBiocideNervous disorderCerebellar ataxiaMedicine
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.
Owner:NATIONAL TAIWAN NORMAL UNIVERSITY
Application of senkyunolide I (SEI) in preparation of medicaments for treating central nervous system neurodegenerative diseases
InactiveCN106265634AOrganic active ingredientsNervous disorderNervous systemCns degenerative diseases
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.
Owner:SHANGHAI ZHANGJIANG ENG RES CENT OF MODERN PREPARATION TECH OF TRADITIONAL CHINESE MEDICINE
Compounds and methods for reducing atxn3 expression
ActiveUS20220064637A1Improve motor functionReduced neuropathyOrganic active ingredientsNervous disorderNeuro-degenerative diseaseMotor dysfunction
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).
Owner:IONIS PHARMA INC
Pharmaceutical composition for the prevention or treatment of degenerative neurological brain disorders
ActiveCN103079556AInhibit apoptosisInhibitory activityOrganic active ingredientsNervous disorderAmnesiaHuntingtons chorea
Owner:SEOUL NAT UNIV R&DB FOUND
NiSOD-like compound and its derivatives for suppressing abnormal protein aggregation, recovering cell viability, increasing mature neuron number and neurite outgrowth length and protecting dopaminergic cells by reducing oxidative stress or reactive oxygen species in brain tissues
ActiveUS9358239B2Suppression problemRelieve pressureOrganic active ingredientsNervous disorderProtein aggregationOxygen
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, recovering cell viability, increasing mature neuron number and neurite outgrowth length and protecting dopaminergic cells by reducing oxidative stress or reactive oxygen species in brain tissues.
Owner:NATIONAL TAIWAN NORMAL UNIVERSITY
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