The multiple faces of spinocerebellar ataxia type 2
Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnorma...
| मुख्य लेखकों: | , , , , , , , , |
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| स्वरूप: | Journal article |
| भाषा: | English |
| प्रकाशित: |
Wiley
2017
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| _version_ | 1826291309599522816 |
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| author | Antenora, A Rinaldi, C Roca, A Pane, C Lieto, M Saccà, F Peluso, S De Michele, G Filla, A |
| author_facet | Antenora, A Rinaldi, C Roca, A Pane, C Lieto, M Saccà, F Peluso, S De Michele, G Filla, A |
| author_sort | Antenora, A |
| collection | OXFORD |
| description | Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin‐2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available. Although the functions of ataxin‐2 have not been completely elucidated, the protein is involved in mRNA processing and control of translation. Recently, it has also been shown that the size of the CAG repeat in normal alleles represents a risk factor for ALS, suggesting that ataxin‐2 plays a fundamental role in maintenance of neuronal homeostasis. |
| first_indexed | 2024-03-07T02:57:30Z |
| format | Journal article |
| id | oxford-uuid:afd3e0af-39fd-49ac-acb3-a0572b843445 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:57:30Z |
| publishDate | 2017 |
| publisher | Wiley |
| record_format | dspace |
| spelling | oxford-uuid:afd3e0af-39fd-49ac-acb3-a0572b8434452022-03-27T03:52:01ZThe multiple faces of spinocerebellar ataxia type 2Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:afd3e0af-39fd-49ac-acb3-a0572b843445EnglishSymplectic Elements at OxfordWiley2017Antenora, ARinaldi, CRoca, APane, CLieto, MSaccà, FPeluso, SDe Michele, GFilla, ASpinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin‐2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available. Although the functions of ataxin‐2 have not been completely elucidated, the protein is involved in mRNA processing and control of translation. Recently, it has also been shown that the size of the CAG repeat in normal alleles represents a risk factor for ALS, suggesting that ataxin‐2 plays a fundamental role in maintenance of neuronal homeostasis. |
| spellingShingle | Antenora, A Rinaldi, C Roca, A Pane, C Lieto, M Saccà, F Peluso, S De Michele, G Filla, A The multiple faces of spinocerebellar ataxia type 2 |
| title | The multiple faces of spinocerebellar ataxia type 2 |
| title_full | The multiple faces of spinocerebellar ataxia type 2 |
| title_fullStr | The multiple faces of spinocerebellar ataxia type 2 |
| title_full_unstemmed | The multiple faces of spinocerebellar ataxia type 2 |
| title_short | The multiple faces of spinocerebellar ataxia type 2 |
| title_sort | multiple faces of spinocerebellar ataxia type 2 |
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