Abstract: Disclosed herein are compounds and methods for decreasing MECP2 mRNA and protein expression. Such compounds and methods are useful to treat, prevent, or ameliorate MECP2 associated disorders and syndromes. Such MECP2 associated disorders include MECP2 duplication syndrome.

Abstract: 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.

Abstract: Disclosed herein are compounds and methods for decreasing MECP2 mRNA and protein expression. Such compounds and methods are useful to treat, prevent, or ameliorate MECP2 associated disorders and syndromes. Such MECP2 associated disorders include MECP2 duplication syndrome.

Abstract: Disclosed herein are methods for decreasing MECP2 mRNA and protein expression. Such methods are useful to treat, prevent, or ameliorate MECP2 associated disorders and syndromes. Such MECP2 associated disorders include MECP2 duplication syndrome.

Abstract: 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.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: The present invention relates to the identification of mutations in a gene encoding a methyl-CpG-binding domain containing protein or alterations in its corresponding protein in neurodevelopmental disease. The protein acts in a complex to regulate transcriptional repression through methylated CpG dinucleotides. Methods to screen mutations in said gene or alterations in said protein related to neurodevelopmental disease are provided. Methods to treat a vertebrate with said disease are also provided.

Abstract: The present invention utilizes a “knock-in” approach to provide a transgenic mammal containing integrated into its genome a repeating nucleotide sequence encoding a polyglutamine comprising at least about 154, preferably at least about 160, 200, 300, 400, 500, and up to 600 or more contiguous glutamine residues. The transgenic mammals normally display observable phenotypic changes. As such, they may serve as a model for disease processes in humans for such diseases as spinobulbar muscular atrophy (SBMA), Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), and the spinocerebellar ataxias types 1, 2, 3, 6, 7, and 17. As a result of displaying pathology indicative of a human disease, the efficacy of an agent for treating human disease may be tested in the transgenic mammals.

Abstract: Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Abstract: The present invention provides a novel method for treating neurodegenerative disease in mammals. This method involves the introduction of a therapeutic effective amount of a chaperone, a chaperone-like-compound or a compound which increases proteasome activity into the neurological system of the mammal. There is also a novel method for screening for compounds having chaperone-like activity or having activity to increase proteasome activity. The screening works in either cultured cells or animal models.

Abstract: The present invention provides a novel method for treating neurodegenerative disease in mammals. This method involves the introduction of a therapeutic effective amount of a chaperone, a chaperone-like-compound or a compound which increases proteasome activity into the neurological system of the mammal. There is also a novel method for screening for compounds having chaperone-like activity or having activity to increase proteasome activity. The screening works in either cultured cells or animal models.

Abstract: 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>36, preferably n.gtoreq.43.

Abstract: 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>36, preferably n.gtoreq.43.