43 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.

This disclosure relates to, inter alia, certain compounds, compositions, and pharmaceutical compositions thereof, that modulate the activity of the transporter protein vesicular monoamine transporter- 2 (VMAT2) and are directed to methods useful in the treatment of transporter protein vesicular monoamine transporter-2 mediated disorders, such as, neurological or psychiatric disease or disorders, including but not limited to, hyperkinetic movement disorders (e.g., tardive dyskinesia, Tourette's syndrome, Huntington's disease, tics, ataxia, chorea (such as, chorea associated with Huntington's disease), dystonia, hemifacial spasm, myoclonus, restless leg syndrome, and tremors). The disclosure further relates to synthetic methods and intermediates useful in the preparation of compounds.

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.

The invention discloses an ataxia dysarthria voice and airflow synchronous analysis and training system and method, and belongs to the technical field of medical rehabilitation, and the system comprises a data collection module, a signal preprocessing module, a voice and airflow synchronization analysis module, a personalized training generation module and a training feedback and evaluation module. Based on a differential geometry principle, a Riemannian manifold theory is innovatively introduced, voice and air flow signals are respectively mapped to different Riemannian manifold spaces, accurate time sequence alignment of the voice-air flow signals is realized by constructing a geodesic flow field, a double-flow network structure is designed to extract voice-air flow synchronization features, and the accuracy of voice-air flow synchronization is improved. According to the method, an accurate dysarthria evaluation result is generated, the system generates a personalized training scheme according to the evaluation result, a training closed loop is formed through real-time feedback and dynamic adjustment, accurate evaluation and effective training of ataxia dysarthria are achieved, and compared with a traditional method, the accuracy of dysarthria analysis is improved by about 35%, and the training efficiency is improved by 30%.

Prenylated tetrahydroquinolines and quinolines and pharmaceutical compositions comprising the same. Prenylated tetrahydroquinoline and quinolines and pharmaceutical compositions comprising the same, for use in the prevention and / or treatment of peroxisome proliferator-activated receptor (PPAR)-mediated diseases such as metabolic syndrome, type 2 diabetes mellitus, dyslipidemia, hyperlipidemia, hypertriglyceridemia, hypercholesterolemia, obesity, dyslipidemic atherosclerosis, metabolic dysfunction- associated fatty liver disease (MAFLD), cardiovascular disease, cardiometabolic disease, neurodegenerative disease, Friedreich's ataxia, Parkinson's disease, multiple sclerosis, Alzheimer's disease, autoimmune disease, rheumatoid arthritis, autoimmune thyroid disease, dermatological disease, and cancer.

The present invention provides a method of treating cancer in a subject, the method comprising administering to the subject: (a) a KRAS inhibitor, and (b) an ataxia telangiectasia and Rad-3 related (ATR) inhibitor. Also disclosed are compositions and kits comprising (a) a KRAS inhibitor and (b) an ATR inhibitor.

The invention relates to a therapeutic agent for neurodegenerative diseases. In particular to application of acetyl-leucine or pharmaceutically acceptable salt thereof in preparation of a medicine for treating ataxia telangiectasia or one or more symptoms related to the ataxia telangiectasia of a subject in need thereof.

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).

Provided are compounds, methods, and pharmaceutical compositions for reducing the amount or activity of LRRK2 RNA in a cell or animal, and in certain instances reducing the amount of LRRK2 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 ataxia, neuropathy, and aggregate formation. Such neurodegenerative diseases include Parkinson's disease.

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 invention relates to ultrastructured gold clusters, Au-pX, consisting of gold atoms and at least one ligand, for use in the treatment of pathologies associated with oxidative stress, wherein the number of gold atoms in the cluster is between 2 and 100 or the cluster dimensions are less than 2 nm. In a preferred embodiment, the Au-pX ultrastructured gold clusters are used in the treatment of Friedreich's ataxia.

The invention relates to the technical field of VR (virtual reality) seat balance devices, in particular to a special seat balance device with VR for ataxia patients, which comprises a supporting seat, an adjusting mechanism is arranged at the lower end of the supporting seat, four supporting parts are arranged on the adjusting mechanism, and adaptive mechanisms are arranged on the four supporting parts. According to the invention, connection of the first damping assembly, the first ball assembly and the seat assembly with the VR assembly can be fully realized according to needs, and the seat assembly with the VR assembly can rotate in multiple directions according to needs of a user under the action of the two universal connection assemblies; meanwhile, by means of a swing part, a push plate part, a U-shaped frame and a second damping assembly, the supporting seat can be matched with the seat assembly with the VR assembly to deflect, the swing condition of the seat assembly with the VR assembly can be fully relieved, and corresponding reset force is achieved so as to control the swing condition of the seat assembly with the VR assembly; and the seat assembly with the VR assembly can be recovered to be stable.

Aspects of the present disclosure relate to compositions and methods for modulating the translation of one or more RNA transcripts (e.g., mRNA transcripts) in a cell or subject. The present disclosure is based, in part, on isolated nucleic acids that bind to an mRNA transcript of a gene involved in L-serine biosynthesis, such as serine palmitoyltransferase long chain base subunit 1 (SPTLC1). In some embodiments, the compositions of the present disclosure are useful for the treatment of diseases or conditions associated with dysregulation of L-serine biosynthesis, such as retinal diseases (e.g., MacTel2 and age-related macular degeneration (AMD), such as AMD with geographic atrophy), HSAN1 (e.g., HSAN1 (a)), diabetic retinopathy, peripheral neuropathy (e.g., neuropathy), and the treatment of diseases or conditions associated with dysregulation of L-serine biosynthesis, such as retinal diseases (e.g., MacTel2 and age-related macular degeneration (AMD), such as AMD with geographic atrophy). ), neurodegenerative disorders (e.g., Parkinson's disease, Friedel's ataxia, motor neuron disease, Alzheimer's disease, amyotrophic lateral sclerosis (ALS), etc.), spasmodic paraplegia or psychiatric disorders (e.g., neurodegenerative disorders, neurodegenerative disorders, etc. ), resistant depression, refractory depression, schizophrenia, and / or refractory schizophrenia.

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