35 results about "Cerebellar ataxia" patented technology

The invention relates the method of treatment or amelioration of mitochondrial disorders such as Alzheimer's disease, Parkinson's disease, Friedreich's ataxia (FRDA), cerebellar ataxias, Leber's hereditary optic neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Myoclonic Epilepsy with Ragged Red Fibers (MERFF), amyotrophic lateral sclerosis (ALS), motor neuron diseases, Huntington's disease, macular degeneration, and epilepsy, with chroman derivatives of Formula I or Formula II as described herein.

The invention discloses a method for constructing a disease model on the basis of a gene operation strategy and application, and relates to the technical field of biology. According to the method, anEmc3 gene is prevented from being expressed in vascular endothelial cells or cerebellum Purkinje cells of a target animal through a gene operation technology. By using the method, a disease animal model showing typical characteristics of retinal neovascularization diseases or cerebellar ataxia diseases can be obtained. The method provides a new thought or strategy for constructing a retinal neovascularization disease model or a cerebellar ataxia disease model. In addition, the disease model obtained by means of the method also provides a model basis for science researchers to study the retinalneovascularization diseases and screen medicines for treating the retinal neovascularization diseases or the cerebellar ataxia diseases.

The invention discloses a construction method and application of an incoordination animal model and relates to the technical field of medical engineering. The construction method of the incoordinationanimal model, disclosed by the invention, comprises the step of knocking out a target sequence on a genome in a cerebellar purkinje cell of a target animal, wherein the target sequence is a Tmem30a gene. According to the method disclosed by the invention, a Tmem30a gene sequence on the genome in the cerebellar purkinje cell of the target animal is specifically knocked out for the first time and acerebellum incoordination animal model can be constructed; the animal model has typical cerebellum incoordination characteristics: unstable treads, cerebellar atrophy, progressive apoptosis of the cerebellar purkinje cell and the like. The model can be used for researching cerebellum incoordination and provides a foundation for finding disease-causing gene of the cerebellum incoordination and exploring pathogenesis.

The invention discloses an experimental animal rat cerebellar ataxia detection model, which is characterized by detecting the changes of induced ataxia after cerebellar injury through an experimental animal rat cerebellar ataxia detector via the establishment of the experimental animal rat cerebellar ataxia detection model. The detector is formed by connecting a camera lucida, a camera obscura, a balance rod, a water pool, an electric stimulus pole piece, an adjustable transformer, a switch, a power supply and wires, wherein a plastic pot is arranged between the camera lucida and the camera obscura; the balance rod is arranged above the water pool and is connected with the camera lucida and the camera obscura; and the electric stimulus pole piece in the camera lucida is successively connected with the switch, the adjustable transformer and the power supply via the wires. The detection model is simple, easy to manufacture and operate, objective and sensitive, and has repeatability, scientificalness, reliability and practicability on orientated, quantitive and qualitative researches on rat ataxia.

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 invention relates to application of 1-[3-(6, 7-dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo [4, 3-d] pyrimidine-5-yl)-4-ethoxy benzenesulfonyl]-cis-3, 5-dimethylpiperazine citrate or Aildenafil citrate in preparation of a medicine for treating neurodegenerative diseases, wherein the treatment of chronic neurodegenerative diseases comprises the treatment of Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis and different types of spinal cerebellar ataxia medicine diseases. The Aildenafil citrate has a wide application prospect in preparation of the medicine for treating the neurodegenerative diseases and treatment of the neurodegenerative diseases.

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.

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 belongs to the field of molecular pathology, and relates to a hereditary medullispinal cerebellar ataxia related gene (mutant), particularly a hereditary medullispinal cerebellar ataxia related gene of which the amino acid sequence is disclosed as SEQ ID NO:7 or SEQ ID NO:9, and more particularly a hereditary medullispinal cerebellar ataxia related gene of which the nucleic acid sequence is disclosed as SEQ ID NO:6 or SEQ ID NO:8. The invention also relates to a recombinant vector containing the medullispinal cerebellar ataxia related gene, a recombinant cell containing the recombinant vector, and a coding protein of the medullispinal cerebellar ataxia related gene. Besides, the invention also relates to an exon of the hereditary medullispinal cerebellar ataxia related gene and a coding protein thereof. The invention provides references for auxiliary molecular diagnosis, molecular typing, prenatal diagnosis, drug target selection and clinical treatment of the hereditary medullispinal cerebellar ataxia.

The invention relates to novel, sustained-release IGF-I therapeutic compositions, a preparation and production method thereof and the use of same in the production of medicaments for the treatment and prevention of neurodegenerative diseases such as, among others, Alzheimer's disease or cerebellar ataxia. The inventive compositions take the form of microspheres having a size of less than 5 micrometres, among other characteristics, and subcutaneous implantation capsules.

The invention relates to a kit, a detection method and a device for detecting dynamic mutation of spinal cerebellar ataxia, and the kit comprises a first specific primer for amplifying an AXTN3 gene, a second specific primer for amplifying an AXTN2 gene, a third specific primer for amplifying a CACNA1A gene and a universal primer, the specific primer of each gene is connected with a preset fixed fragment with the same sequence as the universal primer, and the universal primer is connected with a fluorophore. According to the kit disclosed by the invention, multiple specific primers and universal primers are creatively combined for use, so that the repeated copy number of CAG in an AXTN3 gene, an AXTN2 gene or a CACNA1A gene can be detected at the same time, and the detection efficiency of dynamic mutation of spinal cerebellar ataxia is improved.

The present invention relates to compounds of general formula

wherein

• R¹ is aryl or heteroaryl, which are optionally substituted by one, two or three substituents, selected from lower alkyl, halogen, lower alkyl substituted by halogen, hydroxyl, lower alkoxy, lower alkoxy substituted by halogen, cyano or nitro;
• R² is halogen, lower alkyl or cyano;
• R³ is hydrogen or lower alkyl;
• R⁴ is hydrogen or lower alkyl;
• R⁵, R⁶ are hydrogen, lower alkyl, or may form together with the N-atom to which they are attached a heterocycloalkyl ring;

or to a pharmaceutically acceptable acid addition salt, to a racemic mixture or to its corresponding enantiomer and/or optical isomers thereof.

The compounds may be 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, or abuse of neuro-active drugs, selected from alcohol, opiates, methamphetamine, phencyclidine and cocaine.

Compounds of formula (I)

and salts thereof are KMO inhibitors and may be useful in the treatment of various disorders, for example acute pancreatitis, chronic kidney disease, acute kidney disease, acute kidney injury, other conditions associated with systemic inflammatory response syndrome (SIRS), Huntington's disease, Alzheimer's disease, spinocerebellar ataxias, Parkinson's disease, AIDS-dementia complex, HIV infection, 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 disease, severe acute hepatic disease, severe acute hepatic encephalopathy or acute renal failure.

The invention discloses a genetic screening kit for rare neurodegenerative diseases, application of the genetic screening kit and a screening system. The genetic screening kit for the rare neurodegenerative diseases contains a mutation site screening reagent at the c.580 and/or c.803-1 position of the ADPRS gene. The compound is applied to preparation of a neurodegenerative disease screening reagent, and is preferably applied to preparation of a hereditary child epilepsy cerebellar ataxia screening reagent. The screening system comprises a gene sequence acquisition module and a judgment module, the gene sequence acquisition module is used for acquiring data of single nucleotide polymorphism containing ADPRS alleles c.580 and c.803-1; the judging module is used for judging whether the ADPRS gene contains the composite heterozygous variation c.580Cgt or not; t, and/or c.803-1 Ggt; and judging the genetic risk of the hereditary child epilepsy cerebellar ataxia disease according to the A variation. It is proved that the complex heterozygote is c.580Cgt; t and c.803-1 Ggt; the ADPRS gene variant of A causes a rare neurodegenerative disease, which indicates that the screening reagent provided by the invention has screening significance on the disease.