Methods and compositions for inhibiting and treating neurological conditions

Abstract

This document provides methods and materials related to treating subjects having specific genetic variations associated with neurological disorders such as Parkinson's disease.

1 - 61 . (canceled) 
     
     
         62 . A method of hybridizing a nucleic acid probe or synthesizing a nucleic acid product from a sample from a human subject with parkinsonism, the method comprising:
 (a) hybridizing a nucleic acid probe to a polynucleic acid from the sample by nucleic acid hybridization or microarray analysis, or synthesizing a nucleic acid product from a polynucleic acid from the sample by PCR or sequencing; and   (b) detecting a genetic variation from the human subject by the nucleic acid hybridization, microarray analysis, PCR or sequencing,   wherein the genetic variation is a copy number variation (CNV), wherein the CNV is in a PIK3C3 gene.   
     
     
         63 . The method of  claim 62 , wherein the CNV is in an exon of the PIK3C3 gene. 
     
     
         64 . The method of  claim 62 , wherein the CNV is a gain in the PIKC3C gene. 
     
     
         65 . The method of  claim 64 , wherein the CNV comprises a gain of SEQ ID NO: 190 or the complement thereof. 
     
     
         66 . The method of  claim 64 , wherein the CNV is a gain of SEQ ID NO: 190 or the complement thereof. 
     
     
         67 . The method of  claim 62 , wherein the CNV comprises a 88,818 base pair sequence from position 37877518 to 37966336 in chromosome 18, and the complement thereof, wherein the chromosome positions are defined with respect to NCBI build 36/hg18. 
     
     
         68 . The method of  claim 62 , wherein the CNV disrupts or modulates a RNA transcript with a sequence of SEQ ID NO.: 776, or a protein product encoded by the RNA transcript. 
     
     
         69 . The method of  claim 62 , wherein the CNV results in a loss of function of the PIKC3C gene. 
     
     
         70 . The method of  claim 62 , wherein the nucleic acid product synthesized from the polynucleic acid comprises cDNA. 
     
     
         71 . The method of  claim 62 , wherein a whole genome or exome of the human subject is analyzed. 
     
     
         72 . The method of  claim 62 , wherein the sample is blood, saliva, urine, serum, tears, skin, tissue or hair from the human subject. 
     
     
         73 . The method of  claim 62 , wherein the detecting comprises purifying or amplifying polynucleotides from the polynucleic acid; and performing a microarray analysis of the purified or amplified polynucleotides. 
     
     
         74 . The method of  claim 62 , wherein the microarray analysis is an array Comparative Genomic Hybridization (CGH) analysis. 
     
     
         75 . The method of  claim 62 , wherein the sequencing is high-throughput sequencing. 
     
     
         76 . The method of  claim 66 , wherein the detecting comprises detecting a first genetic variation that is the CNV comprising a gain of SEQ ID NO.: 190 or the complement thereof, wherein the first genetic variation and a second genetic variation are in a panel comprising two or more genetic variations. 
     
     
         77 . The method of  claim 76 , wherein the detecting comprises detecting at least two of the two or more genetic variations. 
     
     
         78 . The method of  claim 77 , wherein the two or more genetic variations of the panel comprise 10 or more genetic variations. 
     
     
         79 . The method of  claim 62 , wherein the human subject has symptoms of Parkinson's disease. 
     
     
         80 . The method of  claim 62 , wherein the parkinsonism is Parkinson's disease. 
     
     
         81 . A method comprising administering a therapeutic agent that treats or slows the progression of one or more symptoms of parkinsonism to a human subject with parkinsonism, wherein the human subject comprises a genetic variation, wherein the genetic variation is a copy number variation (CNV), and wherein the CNV is in a PIK3C3 gene and wherein a sample from the human subject has been assayed to detect the presence of the genetic variation.