27 results about "Ataxia" patented technology

The invention relates to the technical field of intelligent medical auxiliary diagnosis and neural function automatic evaluation, in particular to an NIHSS score automatic evaluation system for a stroke patient. Comprising a multi-mode induction and perception unit which is used as a front-end data entry and is used for collecting patient response in real time to generate a video stream containing depth and color information and a synchronous audio stream; the dynamic reference calibration unit is used for extracting kinematic characteristics to construct an individualized nerve reference template; the neural motion spectrum decomposition unit is used for generating a spectrum pathological feature vector for distinguishing myasthenia and ataxia; the opposite-side image rejection analysis unit is used for generating compensation and driving confidence for representing a real nerve driving intention; the cross-modal reflection analysis unit is used for generating a sensory pathway integrity index according to the nerve conduction velocity difference; and the collaborative scoring decision engine is used for mapping the multi-modal features into standardized NIHSS scores. According to the method, the interference of age and basic physique on scoring is effectively eliminated, and a high-precision comparison reference can be provided for subsequent abnormal judgment of the affected side.

The present application relates to a drug or pharmaceutical composition for preventing, alleviating, or treating cancer and a use thereof, as well as a method for preventing, alleviating, or treating cancer. The drug or pharmaceutical composition of the present application is capable of interfering with ataxia-telangiectasia mutated and Rad3-related kinase (ATR) and mammalian target of rapamycin (mTOR) activity, causing inactivation or reduced activity of ATR and mTOR. The present application provides a novel dual-target strategy for the treatment of cancer.

The present application relates to oligonucleotides (e.g., antisense oligonucleotides such as gapmers) designed to target FXN RNAs and targeting complexes for delivering the oligonucleotides to cells (e.g., muscle cells) and uses thereof, particularly uses relating to treatment of disease. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload increases expression or activity of a FXN allele comprising a disease-associated- repeat.

Provided herein are compounds, methods, and pharmaceutical compositions for reducing the amount or activity of TUBB4A RNA and, in some cases, the amount of TUBB4A protein in a cell or subject. Such compounds, methods, and pharmaceutical compositions are useful for ameliorating at least one symptom of a disease or condition associated with TUBB4A. Such symptoms and markers include hypomyelination, demyelination, dysphonia, myodynia, ataxia, spasm, cerebellar and / or basilar joint atrophy, hypopsia, stiffness, microcephalic deformity, focal cortical dysplasia, seizures, and kindergarten death.

The application relates to the technical field of intelligent medical auxiliary diagnosis and automatic evaluation of nerve functions, in particular to an NIHSS score automatic evaluation system for stroke patients. The system comprises a multi-modal induction and perception unit, which is used as a front-end data inlet and collects patient responses in real time to generate a video stream containing depth and color information and a synchronous audio stream; a dynamic reference calibration unit, which extracts kinematic characteristics to construct an individualized neural reference template; a neural motion frequency spectrum decomposition unit, which generates a frequency spectrum pathological characteristic vector distinguishing muscle weakness and ataxia; a contralateral mirror inhibition analysis unit, which generates compensation and driving confidence representing real neural driving intentions; a cross-modal reflection analysis unit, which generates a sensory pathway integrity index according to the difference in nerve conduction velocity; and a collaborative scoring decision engine, which maps multi-modal characteristics to a standardized NIHSS score. The application effectively eliminates the interference of age and basic physical fitness on the score, and can also provide high-precision comparison references for subsequent abnormality determination of the affected side.

The application discloses a kit for constructing an ATM gene mutation ataxia-telangiectasia model pig nuclear transfer donor cell. The application provides a kit comprising ATM-gRNA1 shown in SEQ ID NO: 16, ATM-gRNA4 shown in SEQ ID NO: 17 and NCN protein. The application also provides a method for preparing a recombinant cell: co-transfecting a pig cell with ATM-gRNA1, ATM-gRNA4 and NCN protein to obtain a recombinant cell. The recombinant cell is a recombinant cell with ATM gene mutation. The kit is used for: preparing a recombinant cell; preparing an ataxia-telangiectasia model pig; preparing an ataxia-telangiectasia cell model or an ataxia-telangiectasia tissue model or an ataxia-telangiectasia organ model. The application has great application value for research and development of ataxia-telangiectasia drugs and revealing the pathogenesis of the disease.

Provided herein are nucleic acids, recombinant adeno-associated viral particles, compositions and methods related to treating Friedreich's ataxia. In some examples, the nucleic acids, recombinant adeno-associated viral particles, compositions and methods involve use of a FXN coding sequence, a truncated FXN 3′ UTR, and a promoter.

A sterol-based compound of formula (I) for its use in preventing, ameliorating and / or treating a mitochondrial deficiency-related pathology chosen from the group consisting of autism, spinal cord injury, multiple sclerosis, epilepsy, migraine, alcohol-related mental pathologies, ataxia, neuropathies, smoking-related cerebral and pulmonary disorders, MERRF syndrome and NARP syndrome. A pharmaceutical composition comprising at least one compound of formula (I).

The present invention provides a method of treating frontotemporal dementia, or a childhood genetic neurodegenerative disease such as Ataxia Telangiectasia (A-T), or neurodegenerative diseases such as Parkinson's disease or neuropsychiatric diseases comprising administering to a subject in need thereof an effective amount of chlorite composition, such as sodium chlorite. The present invention thereby provides a method of modulating the immune system in a subject in need thereof. Described herein are methods of administration and treatment.

This disclosure provides therapeutic compositions (i.e., therapeutic agents) and methods for preventing or treating Friedrich's ataxia in mammalian subjects, reducing risk factors, signs and / or symptoms associated with Friedrich's ataxia (such as complex I deficiency), and / or decreasing the likelihood or severity of Friedrich's ataxia. This disclosure also provides novel intermediates for producing said therapeutic compositions and related reduced forms of said therapeutic compositions, which can also be used as therapeutic agents (or prodrugs of one or more therapeutic agents).

A TAT-FXN fusion polypeptide useful in treating subjects diagnosed with Friedrich's Ataxia, hypertrophic cardiomyopathy, or both are disclosed, as are related methods of treatment and pharmaceutical compositions.

The present disclosure provides methods, compounds, compositions / formulations / drugs, and related uses for treating, preventing, delaying progression of, or delaying onset of cardiomyopathy (such as hypertrophic cardiomyopathy) in a mammalian subject (such as a subject diagnosed with or suspected of having Friedreich’s ataxia). In some embodiments, administration of the disclosed compounds to the subject can result in one or more of the following in the subject: (i) increased survival, (ii) reduced iron deposition in cardiomyocytes, (iii) improvement and / or normalization of mitochondrial size in cardiomyocytes; (iv) reduced cardiac fibrosis, and (v) reverse remodeling of the subject’s heart.

The present invention relates to methods for treating Niemann-Pick disease, Rett syndrome, Leigh syndrome, Multiple System Atrophy, spinomuscular atrophy, Freidrich's Ataxia, or stroke.

Provided are compounds, methods, and pharmaceutical compositions for reducing the amount or activity of PLP1 RNA in a cell or subject, and in certain instances reducing the amount of proteolipid protein 1 in a cell or subject. Such compounds, methods, and pharmaceutical compositions are useful to ameliorate at least one symptom or hallmark of a leukodystrophy. Such symptoms and hallmarks include hypotonia, nystagmus, optic atrophy, respiratory distress, motor delays, cognitive dysfunction, speech dysfunction, spasticity, ataxia, seizures, choreiform movements, and death. Such leukodystrophies include Pelizaeus-Merzbacher disease.

Provided are compounds, methods, and pharmaceutical compositions for reducing the amount or activity of UBE3A-ATS, the endogenous antisense transcript of ubiquitin protein ligase E3A (UBE3A) in a cell or subject, and in certain instances increasing the expression of paternal UBE3A and the amount of UBE3A protein in a cell or subject. Such compounds, methods, and pharmaceutical compositions are useful to ameliorate at least one symptom or hallmark of a neurogenetic disorder. Such symptoms and hallmarks include developmental delays, ataxia, speech impairment, sleep problems, seizures, and EEG abnormalities. Such neurogenetic disorders include Angelman Syndrome.

To provide technologies for diagnosing the risk of developing delayed ataxia in dogs.SOLUTION: Provided is a method for diagnosing the risk of developing delayed ataxia comprising detecting the presence of a haplotype lacking the Proteolipid protein 1 (PLP1) gene on the genome of a subject dog, the detection of the haplotype indicating that the subject dog has the risk of developing delayed ataxia or the subject dog gives birth to offspring having the risk of developing delayed ataxia.SELECTED DRAWING: None

This disclosure relates to imidazo[4,5-c]cinnolin-2-one compounds and pharma- ceutically acceptable salts thereof that selectively modulate ataxia telangiectasia mutated ("ATM") kinase. This disclosure also relates to pharmaceutical compositions comprising one or more of the compounds and their salts as active ingredients, and to the use of the compounds and their salts in the treatment of ATM-related diseases or conditions, including cancer.

MSH3 splice modulators and constructs encoding same are described herein. Compositions and vectors comprising same (e.g., AAV vectors) are also encompassed herein. MSH3 splice modulators and constructs encoding same, as well as compositions and vectors (e.g., AAV vectors) comprising MSH3 splice modulators and constructs encoding MSH3 splice modulators may be used alone or in combination with additional therapeutics for treating nucleotide repeat expansion disorders or in the preparation of medicaments for treating nucleotide repeat expansion disorders. Exemplary nucleotide repeat expansion disorders include the following: Huntington's Disease (HD), Myotonic Dystrophy 1 (DMPK), Myotonic Dystrophy 2 (CNBP), Fuchs Endothelial Corneal Dystrophy (TCF4), Fragile X Syndrome (FMR1), Friedreich Ataxia (FXN), C9orf72 ALS / FTD (C9orf72), SCA1, 2, 3, 6, 7, 8, 10, 17, and 31, Spinal and bulbar muscular atrophy (AR).

The invention discloses a multifunctional walking aid which comprises two inverted-L-shaped mounting racks and two connecting mounting racks, the inverted-L-shaped mounting racks are connected with the corresponding connecting mounting racks, the side wall of one inverted-L-shaped mounting rack is fixedly connected with a connecting rod, the side wall of the other inverted-L-shaped mounting rack is fixedly connected with a connecting cylinder, and the connecting cylinder is fixedly connected with the connecting rod. The connecting rod is in sliding connection with the connecting cylinder; through the arrangement of a limiting plate, a fixing assembly, a first driving assembly and a second driving assembly, the second driving assembly comprises a force return wheel, the force return wheel rolls by a circle and rotates to store force, then moderate forward thrust is generated, a patient is helped to adjust the gravity center forwards again, and the fixing assembly can open, close and lock the limiting plate in cooperation with the arrangement of the limiting plate and the fixing assembly; the device has the effects of preventing the patient from leaning backwards and assisting the gravity center in the assisting process, assists the walking dysfunction patient with ataxia in adjusting the gravity center forwards, induces the normal gravity center direction, does not excessively assist, and is beneficial to walking training.

Provided are compounds, methods, and pharmaceutical compositions for reducing the amount or activity of ATXN3 mRNA in a cell or animal, and in certain instances reducing the amount of Ataxin-3 protein in a cell or animal. Such compounds, methods, and pharmaceutical compositions are useful to prevent or ameliorate at least one symptom or hallmark of a neurodegenerative disease. Such symptoms and hallmarks include ataxia, neuropathy, and aggregate formation. Such neurodegenerative diseases include SCA3.

The disclosure provides phosphorylated carbohydrate replacement therapies (CRT) that include compositions of phosphorylated carbohydrates, such as mannose-1-phosphate (M1P), and phospholipids, as well as methods for preparing such compositions. Such compositions are suitable for pharmaceutical delivery of phosphorylated carbohydrates, such as M1P, for treating CDG type I and CDG type II diseases, including phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG), as well as ataxia.

The present invention relates to quinone, hydroquinone and naphthoquinone analogs of vatebenzoquinone for the treatment of mitochondrial disorder diseases. Disclosed is a compound of formula C-D, or a pharmaceutically acceptable salt, stereoisomer, mixture of stereoisomers, tautomer, hydrate, and / or solvate thereof, where C is 11, and D is 13, 14, 19, or 20. The invention also discloses application of the compound, the pharmaceutically acceptable salt or the composition containing the compound and the pharmaceutically acceptable salt in preparation of medicines for treating or preventing Friedel's Ataxia, improving the expression level of ataxia, treating defects of complex I, reducing or inhibiting the activity of lipoxygenase-15 and reducing or inhibiting ferroptosis, and also discloses application of the compound, the pharmaceutically acceptable salt or the composition containing the compound and the pharmaceutically acceptable salt in preparation of medicines for treating or preventing Friedel's Ataxia, improving the expression level of ataxia, treating defects of complex I.

Recombinant human FXN constructs and related methods for treating Friedreich ataxia (FA), and related disorders in a subject are provided.