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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.

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Title: Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.
Authors: Panza, E., Pippucci, T., Cusano, R., Lo Nigro, C., Pradella, L., Contardi, S., Rouleau, G. A., Stevanin, G., Ravazzolo, R., Liguori, R., Montagna, P., Romeo, G., Seri, M.
Source: European Journal of Neurology. May2008, Vol. 15 Issue 5, p520-524. 5p. 2 Diagrams.
Subjects: Neurodegeneration, Genetic disorders, Spasticity, Paraplegia, Leg diseases
Abstract: Background and purpose: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders, characterized by a progressive spasticity of the lower limbs. So far, 33 different loci ( SPGs) have been mapped and the 15 genes responsible have been identified. We mapped a locus responsible for a form of spastic paraplegia, complicated by bilateral cataracts, gastroesophageal reflux with persisting vomiting and amyotrophy to chromosome 10q23.3–q24.2, in an Italian family. The critical region was in a 12 cm chromosomal interval between markers D10S564 and D10S603 ( SPG9, MIM601162). In the same region, two other forms of HSP have been recently mapped: SPG27 and SPG33. In the latter case, the gene responsible has been identified. Materials and methods: To better characterize this region, we genotyped individuals from SPG9-linked families using additional markers and reduced the candidate region to a 4.8 Mb, excluding several genes by positional cloning. Results: The refined SPG9 locus is positioned completely within SPG27 and does not include the SPG33 gene. Discussion: Fifty-two transcripts are present in the refined critical region and 25 strong candidates have been excluded as disease causing genes by direct sequencing. Six of them were also excluded as responsible for SPG27. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.
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  Data: <searchLink fieldCode="AR" term="%22Panza%2C+E%2E%22">Panza, E.</searchLink><br /><searchLink fieldCode="AR" term="%22Pippucci%2C+T%2E%22">Pippucci, T.</searchLink><br /><searchLink fieldCode="AR" term="%22Cusano%2C+R%2E%22">Cusano, R.</searchLink><br /><searchLink fieldCode="AR" term="%22Lo+Nigro%2C+C%2E%22">Lo Nigro, C.</searchLink><br /><searchLink fieldCode="AR" term="%22Pradella%2C+L%2E%22">Pradella, L.</searchLink><br /><searchLink fieldCode="AR" term="%22Contardi%2C+S%2E%22">Contardi, S.</searchLink><br /><searchLink fieldCode="AR" term="%22Rouleau%2C+G%2E+A%2E%22">Rouleau, G. A.</searchLink><br /><searchLink fieldCode="AR" term="%22Stevanin%2C+G%2E%22">Stevanin, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Ravazzolo%2C+R%2E%22">Ravazzolo, R.</searchLink><br /><searchLink fieldCode="AR" term="%22Liguori%2C+R%2E%22">Liguori, R.</searchLink><br /><searchLink fieldCode="AR" term="%22Montagna%2C+P%2E%22">Montagna, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Romeo%2C+G%2E%22">Romeo, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Seri%2C+M%2E%22">Seri, M.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. May2008, Vol. 15 Issue 5, p520-524. 5p. 2 Diagrams.
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  Data: <searchLink fieldCode="DE" term="%22Neurodegeneration%22">Neurodegeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Spasticity%22">Spasticity</searchLink><br /><searchLink fieldCode="DE" term="%22Paraplegia%22">Paraplegia</searchLink><br /><searchLink fieldCode="DE" term="%22Leg+diseases%22">Leg diseases</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Background and purpose: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders, characterized by a progressive spasticity of the lower limbs. So far, 33 different loci ( SPGs) have been mapped and the 15 genes responsible have been identified. We mapped a locus responsible for a form of spastic paraplegia, complicated by bilateral cataracts, gastroesophageal reflux with persisting vomiting and amyotrophy to chromosome 10q23.3–q24.2, in an Italian family. The critical region was in a 12 cm chromosomal interval between markers D10S564 and D10S603 ( SPG9, MIM601162). In the same region, two other forms of HSP have been recently mapped: SPG27 and SPG33. In the latter case, the gene responsible has been identified. Materials and methods: To better characterize this region, we genotyped individuals from SPG9-linked families using additional markers and reduced the candidate region to a 4.8 Mb, excluding several genes by positional cloning. Results: The refined SPG9 locus is positioned completely within SPG27 and does not include the SPG33 gene. Discussion: Fifty-two transcripts are present in the refined critical region and 25 strong candidates have been excluded as disease causing genes by direct sequencing. Six of them were also excluded as responsible for SPG27. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/j.1468-1331.2008.02117.x
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        Type: general
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      – SubjectFull: Spasticity
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