Spinocerebellar ataxia-21 in a Turkish child
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we re...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2018;volume=21;issue=1;spage=68;epage=70;aulast=Incecik |
| _version_ | 1818320771376742400 |
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| author | Faruk Incecik Ozlem M Herguner Patrick Willems Neslihan O Mungan |
| author_facet | Faruk Incecik Ozlem M Herguner Patrick Willems Neslihan O Mungan |
| author_sort | Faruk Incecik |
| collection | DOAJ |
| description | Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey. |
| first_indexed | 2024-12-13T10:30:18Z |
| format | Article |
| id | doaj.art-72a18544357248a38ddbe316eead75e3 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-12-13T10:30:18Z |
| publishDate | 2018-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-72a18544357248a38ddbe316eead75e32022-12-21T23:50:53ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492018-01-01211687010.4103/aian.AIAN_415_17Spinocerebellar ataxia-21 in a Turkish childFaruk IncecikOzlem M HergunerPatrick WillemsNeslihan O MunganHereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2018;volume=21;issue=1;spage=68;epage=70;aulast=IncecikAtaxiachildgenetic mutation |
| spellingShingle | Faruk Incecik Ozlem M Herguner Patrick Willems Neslihan O Mungan Spinocerebellar ataxia-21 in a Turkish child Annals of Indian Academy of Neurology Ataxia child genetic mutation |
| title | Spinocerebellar ataxia-21 in a Turkish child |
| title_full | Spinocerebellar ataxia-21 in a Turkish child |
| title_fullStr | Spinocerebellar ataxia-21 in a Turkish child |
| title_full_unstemmed | Spinocerebellar ataxia-21 in a Turkish child |
| title_short | Spinocerebellar ataxia-21 in a Turkish child |
| title_sort | spinocerebellar ataxia 21 in a turkish child |
| topic | Ataxia child genetic mutation |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2018;volume=21;issue=1;spage=68;epage=70;aulast=Incecik |
| work_keys_str_mv | AT farukincecik spinocerebellarataxia21inaturkishchild AT ozlemmherguner spinocerebellarataxia21inaturkishchild AT patrickwillems spinocerebellarataxia21inaturkishchild AT neslihanomungan spinocerebellarataxia21inaturkishchild |