From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17
Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and inv...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/643289 |
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| author | Georgios Koutsis Marios Panas George P. Paraskevas Anastasia M. Bougea Athina Kladi Georgia Karadima Elisabeth Kapaki |
| author_facet | Georgios Koutsis Marios Panas George P. Paraskevas Anastasia M. Bougea Athina Kladi Georgia Karadima Elisabeth Kapaki |
| author_sort | Georgios Koutsis |
| collection | DOAJ |
| description | Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family. |
| format | Article |
| id | doaj-art-c0ad08d9062c425183e990f626347d11 |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-c0ad08d9062c425183e990f626347d112025-02-03T06:00:57ZengWileyCase Reports in Neurological Medicine2090-66682090-66762014-01-01201410.1155/2014/643289643289From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17Georgios Koutsis0Marios Panas1George P. Paraskevas2Anastasia M. Bougea3Athina Kladi4Georgia Karadima5Elisabeth Kapaki6Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, GreeceIntroduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.http://dx.doi.org/10.1155/2014/643289 |
| spellingShingle | Georgios Koutsis Marios Panas George P. Paraskevas Anastasia M. Bougea Athina Kladi Georgia Karadima Elisabeth Kapaki From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 Case Reports in Neurological Medicine |
| title | From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 |
| title_full | From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 |
| title_fullStr | From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 |
| title_full_unstemmed | From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 |
| title_short | From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 |
| title_sort | from mild ataxia to huntington disease phenocopy the multiple faces of spinocerebellar ataxia 17 |
| url | http://dx.doi.org/10.1155/2014/643289 |
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