Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.
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| Title: | Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability. |
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| Authors: | Paolini Paoletti, Federico (AUTHOR), Prontera, Paolo (AUTHOR), Nigro, Pasquale (AUTHOR), Simoni, Simone (AUTHOR), Cappelletti, Giulia (AUTHOR), Filidei, Marta (AUTHOR), Calabresi, Paolo (AUTHOR), Parnetti, Lucilla (AUTHOR), Tambasco, Nicola (AUTHOR) |
| Source: | Neurological Sciences. Oct2021, Vol. 42 Issue 10, p4309-4315. 7p. 4 Charts. |
| Abstract: | Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. A number of repeats higher than 49 are full penetrance-expanded. The range between 41 and 49 repeats is characterized by decreased penetrance, and it is usually referred to as "small." Here, we describe two patients with the SCA17 phenotype and with 43 and 44 CAG repeats in the TBP gene, and review all the previously reported cases of SCA17 with a small range of expansions. We focus on both clinical features and imaging findings, which, in the case of small-expanded alleles, can resemble those of atypical parkinsonisms. Thus, we suggest to consider the small-expanded allele SCA17 as a possible diagnosis in patients with adult-onset ataxia, even when both clinical and imaging characteristics are suggestive for other non-genetic neurodegenerative diseases. [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: 152463402 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Paolini+Paoletti%2C+Federico%22">Paolini Paoletti, Federico</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Prontera%2C+Paolo%22">Prontera, Paolo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nigro%2C+Pasquale%22">Nigro, Pasquale</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Simoni%2C+Simone%22">Simoni, Simone</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cappelletti%2C+Giulia%22">Cappelletti, Giulia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Filidei%2C+Marta%22">Filidei, Marta</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Calabresi%2C+Paolo%22">Calabresi, Paolo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Parnetti%2C+Lucilla%22">Parnetti, Lucilla</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tambasco%2C+Nicola%22">Tambasco, Nicola</searchLink> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Oct2021, Vol. 42 Issue 10, p4309-4315. 7p. 4 Charts. – Name: Abstract Label: Abstract Group: Ab Data: Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. A number of repeats higher than 49 are full penetrance-expanded. The range between 41 and 49 repeats is characterized by decreased penetrance, and it is usually referred to as "small." Here, we describe two patients with the SCA17 phenotype and with 43 and 44 CAG repeats in the TBP gene, and review all the previously reported cases of SCA17 with a small range of expansions. We focus on both clinical features and imaging findings, which, in the case of small-expanded alleles, can resemble those of atypical parkinsonisms. Thus, we suggest to consider the small-expanded allele SCA17 as a possible diagnosis in patients with adult-onset ataxia, even when both clinical and imaging characteristics are suggestive for other non-genetic neurodegenerative diseases. [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/s10072-021-05313-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 4309 Titles: – TitleFull: Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Paolini Paoletti, Federico – PersonEntity: Name: NameFull: Prontera, Paolo – PersonEntity: Name: NameFull: Nigro, Pasquale – PersonEntity: Name: NameFull: Simoni, Simone – PersonEntity: Name: NameFull: Cappelletti, Giulia – PersonEntity: Name: NameFull: Filidei, Marta – PersonEntity: Name: NameFull: Calabresi, Paolo – PersonEntity: Name: NameFull: Parnetti, Lucilla – PersonEntity: Name: NameFull: Tambasco, Nicola IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 42 – Type: issue Value: 10 Titles: – TitleFull: Neurological Sciences Type: main |
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