CAG mutation effect on rate of progression in Huntington's disease.
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| Title: | CAG mutation effect on rate of progression in Huntington's disease. |
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| Authors: | Squitieri, F., Cannella, M., Simonelli, M. |
| Source: | Neurological Sciences. Sep2002 Supplement 2, Vol. 23, pS107. 2p. |
| Subjects: | Huntington disease, Genetic disorders |
| Abstract: | Huntington's disease (HD) is progressively invalidating and caused by a CAG expanded mutation. We tested the effect of the mutation length on the rate of progression in a cohort of 80 patients clinically followed-up and genetically characterized. Two patients presenting an infantile and aggressive HD form starting under 10 years had over 90 repeats; the other patients did not show any influence of the CAG expanded number on the rate of progression. In conclusion, the CAG expanded repeat affects the disease progression only at a very upper pathological range and in rare cases initiating very early in the life, while it does not seem to affect in any way the severity of the phenotype in most HD patients. Other factors affecting the motor symptom progression, other than the expanded repeats, therefore have to be investigated. [ABSTRACT FROM AUTHOR] |
| Copyright of Neurological Sciences is the property of Springer Nature 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 8907940 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: CAG mutation effect on rate of progression in Huntington's disease. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Squitieri%2C+F%2E%22">Squitieri, F.</searchLink><br /><searchLink fieldCode="AR" term="%22Cannella%2C+M%2E%22">Cannella, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Simonelli%2C+M%2E%22">Simonelli, M.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Sep2002 Supplement 2, Vol. 23, pS107. 2p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Huntington+disease%22">Huntington disease</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Huntington's disease (HD) is progressively invalidating and caused by a CAG expanded mutation. We tested the effect of the mutation length on the rate of progression in a cohort of 80 patients clinically followed-up and genetically characterized. Two patients presenting an infantile and aggressive HD form starting under 10 years had over 90 repeats; the other patients did not show any influence of the CAG expanded number on the rate of progression. In conclusion, the CAG expanded repeat affects the disease progression only at a very upper pathological range and in rare cases initiating very early in the life, while it does not seem to affect in any way the severity of the phenotype in most HD patients. Other factors affecting the motor symptom progression, other than the expanded repeats, therefore have to be investigated. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Neurological Sciences is the property of Springer Nature 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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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s100720200092 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 2 StartPage: S107 Subjects: – SubjectFull: Huntington disease Type: general – SubjectFull: Genetic disorders Type: general Titles: – TitleFull: CAG mutation effect on rate of progression in Huntington's disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Squitieri, F. – PersonEntity: Name: NameFull: Cannella, M. – PersonEntity: Name: NameFull: Simonelli, M. IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 09 Text: Sep2002 Supplement 2 Type: published Y: 2002 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 23 Titles: – TitleFull: Neurological Sciences Type: main |
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