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Ataxias constitute a group of heterogeneous diseases with overlapping symptoms. The clinical investigation should primarily seek for treatable conditions such as neurometabolic disorders and autoimmune diseases. Rapid progression is often characteristic for paraneoplastic cerebellar degeneration, autoimmune diseases or multiple system atrophy (MSA). The rapid development of massive parallel DNA sequencing and its increased accessibility have enabled for improved diagnostic resolution of patients. A diagnosis based on the etiology is crucial for prognosis and treatment of ataxias. In hereditary forms, the identification of causative genetic factors is essential for family planning.
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Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were re...
Spinocerebellar ataxia (SCA) is part of a genetic and clinical heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia. To describe the results of audio...
Cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. In sporadic cases, two entities are recognized: multiple system atrophy of cerebellar type (MSA-C) and...
Early onset ataxias (EOAs) are a heterogeneous group of neurological conditions, responsible for severe motor disability in paediatric age, which still lack reliable outcome measures. Available scales...
Mutations in sequestosome 1 () gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in was also found to cause a ...
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate ba...
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g)...
Neurodegenerative ataxia represents a group of disabling diseases. No effective treatment is currently available for them. Currently, studies are going on the effectiveness of noninvasive ...
The purpose of this research study is to investigate how the brain and motor behavior changes both in individuals with spinocerebellar ataxia and healthy individuals, and to assess whether...
This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems ca...
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
A group of closely-related heterogeneous-nuclear ribonucleoproteins that are involved in pre-mRNA splicing.
A group of closely-related 72-74-kDa heterogeneous-nuclear ribonucleoproteins that are involved in RNA SPLICING events.
A group of closely related heterogeneous-nuclear ribonucleoproteins of approximately 41-43 kDa in size found in the cell nucleus. Members of this class have been implicated in a variety of processes including splicing, polyadenylation, and nuclear retention of RNA.
A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls.
Autoimmune disorders are conditions that occurs when the immune system mistakenly attacks and destroys healthy body tissue. There are more than 80 different types of autoimmune disorders. Normally the immune system's white blood cells help protect ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...