Abstract: A method for determining a hyperexcitability in a subject comprising detecting a repeat expansion of TTTCA, TTTTA, or a complementary sequence thereof in a nucleic acid sample from the subject.

Abstract: A method for determining a neuromuscular disease accompanied with a repeat expansion of CGG in a nucleic acid in a subject comprising detecting a repeat expansion of CGG or a complementary sequence thereof in a nucleic acid sample from the subject.

Abstract: A method for determining a neuromuscular disease accompanied with a repeat expansion of CGG in a nucleic acid in a subject comprising: obtaining a nucleic acid fragment having a repeat expansion of CGG or a complementary sequence thereof from a nucleic acid sample from the subject, circularizing the nucleic acid fragment with an origin of chromosome (oriC) cassette to form a circular nucleic acid, amplifying the circular nucleic acid to produce a plurality of circular nucleic acids, and detecting the repeat expansion of CGG or the complementary sequence thereof.

Abstract: A method for determining a hyperexcitability in a subject comprising detecting a repeat expansion of TTTCA, TTTTA, or a complementary sequence thereof in a nucleic acid sample from the subject.

Abstract: The present invention provides a method of diagnosing a cerebrovascular disease in a human comprising the steps of: (a) measuring a mutation of HTRA1 gene in a test sample from said human; and (b) determining if the mutation of HTRA1 gene in said test sample correlates with a cerebrovascular disease in said human.

Abstract: An object of the present invention is to elucidate the onset mechanism of MSA through specification of a causative gene of it and further, to find a treatment method of it. The present invention provides a method for testing a multiple system atrophy risk of a test subject including a step of detecting a variant that deteriorates the biosynthesis of coenzyme Q10 in a sample collected from the test subject. Examples of the variant that deteriorates the biosynthesis of coenzyme Q10 include variants that suppress the expression or function of coenzyme Q2.

Abstract: The present invention provides a method of diagnosing a cerebrovascular disease in a human comprising the steps of: (a) measuring a mutation of HTRA1 gene in a test sample from said human; and (b) determining if the mutation of HTRA1 gene in said test sample correlates with a cerebrovascular disease in said human.

Abstract: The present invention provides polynucleotides and proteins, which are involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and methods of using the polynucleotides and/or proteins to treat and/or diagnose EAOH.

Abstract: The present invention provides polynucleotides and proteins, which are involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and methods of using the polynucleotides and/or proteins to treat and/or diagnose EAOH.

Abstract: The present invention provides polynucleotides and proteins, which are involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and methods of using the polynucleotides and/or proteins to treat and/or diagnose EAOH.

Abstract: The present invention provides polynucleotides and proteins, which are involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and methods of using the polynucleotides and/or proteins to treat and/or diagnose EAOH.

Abstract: To elucidate the molecular mechanisms of “gain of toxic function” of expanded polyglutamine stretches in CAG repeat expansion diseases, the inventors established an expression system of full-length and truncated cDNAs for dentatorubral-pallidoluysian atrophy (DRPLA) and found that truncated DRPLA proteins containing the expanded polyglutamine stretch, but not the full-length protein, form peri- and intra-nuclear aggregates consisting of filaments and concomitant apoptosis. The apoptotic cell death was partially suppressed by transglutaminase inhibitors, cystamine and monodansyl cadaverine, raising the possibility of involvement of transglutaminase reaction. The results may provide a potential basis for the development of therapeutic measures for CAG repeat expansion diseases.

Abstract: A method for specifically diagnosing spinocerebellar ataxia type 2 (SCA2) is disclosed. In the method of the present invention, PCR is carried out using a first primer which hybridizes with a part of the nucleotide sequence shown in SEQ ID NO:1, a second primer which hybridizes with a part of the nucleotide sequence shown in SEQ ID NO:3, and a test DNA as a template, and the number of CAG repeats is measured in the amplified PCR product. Since the numbers of CAG repeat in the genes of SCA2 patients are not less than 35 while those of normal individuals are 15 to 24, diagnosis of SCA2 can be carried out by the method of the present invention.

Abstract: A novel protein of GIF having growth-inhibitory action, which is present in the brain of normal subjects but absent in the brain of patients with Alzheimer disease, was cloned from a human-cerebral cDNA library and human genomic DNA library. Further, Escherichia coli was transformed with a vector integrated by the cDNA to express GIF. The DNA coding for the cloned GIF can be used in the genetic diagnosis and gene therapy for Alzheimer disease, and the expression of the DNA in the transformant can bring about a large production of GIF.