University of Minnesota

Baylor College of Medicine

Harry T Orr

Huda Y Zoghbi

Laura P Ranum

Ming-yi Chung

Emily A L Wozniak

Beverly H Koller

A method for treating a subject having, or at risk of having, ataxia, generally includes administering to the subject an amount of a composition comprising a cholecystokinin receptor (Cck1R) agonist effective to ameliorate at least one symptom or clinical sign of ataxia.

Ataxia therapeutic compositions and methods

The present invention provides an isolated DNA molecule of the autosomal dominant spinocerebellar ataxia type 1 gene, which is located within the short arm of chromosome 6. This isolated DNA molecule is preferably located within a 3.36 kb EcoRI fragment, i.e., an EcoRI fragment containing about 3360 base pairs, of the SCA1 gene. The isolated sequences contain a CAG repeat region. The number of CAG trinucleotide repeats (n) is .ltoreq.36, preferably n=19-36, for normal individuals. For an affected individual n&gt;36, preferably n.gtoreq.43.

Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis

The present invention provides an isolated DNA sequence of the short arm of chromosome 6 which is located within the autosomal dominant spinocerebellar ataxia type 1 gene. This isolated DNA sequence is preferably located within a 3.36 kb EcoRI fragment, i.e., an EcoRI fragment containing about 3360 base pairs, of the SCA1 gene. The isolated sequence preferably contains a CAG repeat region. The number of CAG trinucleotide repeats (n) is.ltoreq.36, preferably n=19-36, for normal individuals. For an affected individual n&gt;36, preferably n.gtoreq.43.

HLA class I and class II locus specific DNA probes are prepared by cloning DNA segments obtained from the 3'-untranslated region and the 5' flanking region of isolated alleles. The probes are useful to determine the HLA alleles present in an individual.

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Minneapolis, MN, United States of America

Harry T Orr