Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Abstract Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. Case presentation A family affected by spinocerebellar ataxia was id...
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| Format: | Article |
| Language: | English |
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BMC
2023-04-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-023-03897-y |
| _version_ | 1797836446994792448 |
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| author | Niharika Duggirala Kathie J. Ngo Sabrina M. Pagnoni Alberto L. Rosa Brent L. Fogel |
| author_facet | Niharika Duggirala Kathie J. Ngo Sabrina M. Pagnoni Alberto L. Rosa Brent L. Fogel |
| author_sort | Niharika Duggirala |
| collection | DOAJ |
| description | Abstract Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. Case presentation A family affected by spinocerebellar ataxia was identified in Argentina and investigated using whole exome sequencing to determine the genetic etiology. The proband, a female white Hispanic aged 48, was noted to have slowly progressive gait ataxia, dysarthria, nystagmus, and moderate cerebellar atrophy. Whole exome sequencing was performed on three affected and two unaffected family members and revealed a dominant pathogenic variant, p.Gln127Arg (19:54392986 A>G), in the protein kinase C gamma gene, and the family was diagnosed with spinocerebellar ataxia type 14. Conclusions To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families. |
| first_indexed | 2024-04-09T15:09:26Z |
| format | Article |
| id | doaj.art-de0fcc5103f04f0493498f44d3df4373 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-09T15:09:26Z |
| publishDate | 2023-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-de0fcc5103f04f0493498f44d3df43732023-04-30T11:17:38ZengBMCJournal of Medical Case Reports1752-19472023-04-011711610.1186/s13256-023-03897-ySpinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case reportNiharika Duggirala0Kathie J. Ngo1Sabrina M. Pagnoni2Alberto L. Rosa3Brent L. Fogel4Department of Neurology, David Geffen School of Medicine, University of CaliforniaDepartment of Neurology, David Geffen School of Medicine, University of CaliforniaLaboratorio de Genética y Biología Molecular, Fundación Allende Y Sanatorio AllendeLaboratorio de Genética y Biología Molecular, Fundación Allende Y Sanatorio AllendeDepartment of Neurology, David Geffen School of Medicine, University of CaliforniaAbstract Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. Case presentation A family affected by spinocerebellar ataxia was identified in Argentina and investigated using whole exome sequencing to determine the genetic etiology. The proband, a female white Hispanic aged 48, was noted to have slowly progressive gait ataxia, dysarthria, nystagmus, and moderate cerebellar atrophy. Whole exome sequencing was performed on three affected and two unaffected family members and revealed a dominant pathogenic variant, p.Gln127Arg (19:54392986 A>G), in the protein kinase C gamma gene, and the family was diagnosed with spinocerebellar ataxia type 14. Conclusions To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families.https://doi.org/10.1186/s13256-023-03897-yCase reportPRKCGSCA14Spinocerebellar ataxiaWhole exome sequencing |
| spellingShingle | Niharika Duggirala Kathie J. Ngo Sabrina M. Pagnoni Alberto L. Rosa Brent L. Fogel Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report Journal of Medical Case Reports Case report PRKCG SCA14 Spinocerebellar ataxia Whole exome sequencing |
| title | Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report |
| title_full | Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report |
| title_fullStr | Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report |
| title_full_unstemmed | Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report |
| title_short | Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report |
| title_sort | spinocerebellar ataxia type 14 sca14 in an argentinian family a case report |
| topic | Case report PRKCG SCA14 Spinocerebellar ataxia Whole exome sequencing |
| url | https://doi.org/10.1186/s13256-023-03897-y |
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