Methods for diagnosing, prognosing, and treating parkinsonism
This document provides methods and materials related to genetic variations of neurological disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Parkinson's disease.
1. A method comprising:
(a) (i) hybridizing a nucleic acid probe to a polynucleic acid from a human subject by nucleic acid hybridization or microarray analysis, or
(a) (ii) synthesizing a nucleic acid product from a polynucleic acid from a human subject by PCR or sequencing, wherein the human subject has parkinsonism, Parkinson's Disease or symptoms of Parkinson's Disease; and
(b) detecting a genetic variation by the nucleic acid hybridization, microarray analysis, PCR or sequencing, wherein the genetic variation is a copy number variation (CNV) that is a loss of SEQ ID NO: 41, and the complement thereof, in a FGGY gene.
2. The method of claim 1 , wherein the human subject has Parkinson's disease.
3. The method of claim 1 , wherein the human subject has parkinsonism.
4. The method of claim 1 , wherein the nucleic acid product synthesized from the polynucleic acid is cDNA.
5. The method of claim 1 , wherein the polynucleic acid comprises a nucleic acid from blood, saliva, urine, serum, tears, skin, tissue, or hair from the subject.
6. The method of claim 1 , wherein the detecting comprises purifying the polynucleic acid; and performing a microarray analysis of the purified polynucleic acid.
7. The method of claim 1 , wherein the microarray analysis is selected from the group consisting of a Comparative Genomic Hybridization (CGH) array analysis and an SNP array analysis.
8. The method of claim 1 , wherein the sequencing is a high-throughput sequencing method.
9. The method of claim 1 , wherein the whole genome or the exome of the subject is analyzed.
10. The method of claim 1 , wherein the detecting comprises detecting a first genetic variation that is the CNV that is a loss of SEQ ID NO: 41 and the complement thereof, wherein the first genetic variation and a second genetic variation are in a panel comprising two or more genetic variations.
11. A method comprising:
(a) (i) hybridizing a nucleic acid probe to a polynucleic acid from a human subject by nucleic acid hybridization or microarray analysis, or
(a) (ii) synthesizing a nucleic acid product from a polynucleic acid from a human subject by PCR or sequencing, wherein the human subject has parkinsonism, Parkinson's Disease or symptoms of Parkinson's Disease; and
(b) detecting a genetic variation by the nucleic acid hybridization, microarray analysis, PCR or sequencing, wherein the genetic variation is a copy number variation (CNV) that is a loss of the 38,485 base pair sequence from position 59770306 to 59808791 in chromosome 1, and the complements thereof, wherein the chromosome positions are defined with respect to NCBI build 36/hg18.
12. The method of claim 11 , wherein the human subject has Parkinson's disease.
13. The method of claim 11 , wherein the human subject has parkinsonism.
14. The method of claim 11 , wherein the nucleic acid product synthesized from the polynucleic acid is cDNA.
15. The method of claim 11 , wherein the polynucleic acid comprises a nucleic acid from blood, saliva, urine, serum, tears, skin, tissue, or hair from the subject.
16. The method of claim 11 , wherein the detecting comprises purifying the polynucleic acid; and performing a microarray analysis of the purified polynucleic acid.
17. The method of claim 11 , wherein the microarray analysis is selected from the group consisting of a Comparative Genomic Hybridization (CGH) array analysis and an SNP array analysis.
18. The method of claim 11 , wherein the sequencing is a high-throughput sequencing method.
19. The method of claim 11 , wherein the whole genome or the exome of the subject is analyzed.
20. The method of claim 11 , wherein the detecting comprises detecting a first genetic variation that is the CNV that is the loss of the 38,485 base pair sequence from position 59770306 to 59808791 in chromosome 1 and the complement thereof, wherein the chromosome positions are defined with respect to NCBI build 36/hg18, wherein the first genetic variation and a second genetic variation are in a panel comprising two or more genetic variations.
21. 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) that is a loss of the 38,485 base pair sequence from position 59770306 to 59808791 in chromosome 1, and the complements thereof, wherein the chromosome positions are defined with respect to NCBI build 36/hg18 and wherein a sample from the human subject has been assayed to detect the presence of the genetic variation.
22. 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) that is a loss of SEQ ID NO: 41, and the complement thereof and wherein a sample from the human subject has been assayed to detect the presence of the genetic variation.