Ataxia is a clinical sign of lack of muscle coordination, affecting a variety of voluntary movements such as walking, speech, and swallowing. It may also signify a group of degenerative diseases of the nervous system, which may be of sporadic or hereditary nature. Hereditary ataxia is a group of rare genetic neuromuscular disorders. It is often caused by a gene defect that produces abnormal proteins which interferes with the function of the nerve cells and results in degerenation over time. Autosomal recessive Cayman cerebellar ataxia, or Cayman ataxia, was identified in a population isolated on Grand Cayman Island. This disorder is characterized by marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Currently there is a need for identification of the molecular basis of ataxia, as well as for improved diagnostics and treatments for ataxia.
This invention from the University of Michigan researchers provides assays for detection of ataxia polymorphisms and mutations associated with disease or disease carrier states. Samples that can be assayed include blood, tissue, urine, saliva, and amniotic fluid, which may be obtained using minimally invasive methods. Detection kits described in this invention may include antibodies, as well as reagents for performing a nucleic acid detection assay selected from the group consisting of nucleic acid sequencing, polymerase chain reaction, hybridization, denaturing high pressure liquid chromatography, mass spectrometry, and enzymatic detection. US patent application (10/699,941) is pending.
Applications and Advantages
- detection and gene therapy for Cayman ataxia
- drug screening applications for compounds-nl-for ataxia and related disorders
- assays applicable for samples that can be-nl-obtained via minimally invasive methods
- kit and reagent components for various-nl-assay formats