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Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
INTRODUCTION: SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. OBJECTIVE: The present study was aimed at describing the clini...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925464/ https://www.ncbi.nlm.nih.gov/pubmed/27143115 http://dx.doi.org/10.1016/j.parkreldis.2016.04.030 |
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author | Borroni, Barbara Di Gregorio, Eleonora Orsi, Laura Vaula, Giovanna Costanzi, Chiara Tempia, Filippo Mitro, Nico Caruso, Donatella Manes, Marta Pinessi, Lorenzo Padovani, Alessandro Brusco, Alfredo Boccone, Loredana |
author_facet | Borroni, Barbara Di Gregorio, Eleonora Orsi, Laura Vaula, Giovanna Costanzi, Chiara Tempia, Filippo Mitro, Nico Caruso, Donatella Manes, Marta Pinessi, Lorenzo Padovani, Alessandro Brusco, Alfredo Boccone, Loredana |
author_sort | Borroni, Barbara |
collection | PubMed |
description | INTRODUCTION: SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. OBJECTIVE: The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38. METHODS: We extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families. All had the ELOVL5 c.689G > T (p.Gly230Val) missense mutation. RESULTS: Age at disease onset was in the fourth decade of life. The presenting features were nystagmus (100% of cases) and slowly progressive gait ataxia (95%). Frequent signs and symptoms included pes cavus (82%) and hyposmia (76%); rarer symptoms were hearing loss (33%) and anxiety disorder (33%). The disease progressed with cerebellar symptoms such as limb ataxia, dysarthria, dysphagia, and ophtalmoparesis followed in the later stages by ophtalmoplegia. Peripheral nervous system involvement was present in the last phase of disease with sensory loss. Dementia or extrapyramidal signs were not detected. Significant loss of abilities of daily living was reported only after 20 years of the disease. Brain imaging documented cerebellar atrophy with sparing of cerebral cortex and no white matter disease. CONCLUSIONS: SCA38 is a rare form of inherited ataxia with characteristic clinical features, including pes cavus and hyposmia, that may guide genetic screening and prompt diagnosis in light of possible future therapeutic interventions. |
format | Online Article Text |
id | pubmed-4925464 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Elsevier Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-49254642016-07-13 Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) Borroni, Barbara Di Gregorio, Eleonora Orsi, Laura Vaula, Giovanna Costanzi, Chiara Tempia, Filippo Mitro, Nico Caruso, Donatella Manes, Marta Pinessi, Lorenzo Padovani, Alessandro Brusco, Alfredo Boccone, Loredana Parkinsonism Relat Disord Article INTRODUCTION: SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. OBJECTIVE: The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38. METHODS: We extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families. All had the ELOVL5 c.689G > T (p.Gly230Val) missense mutation. RESULTS: Age at disease onset was in the fourth decade of life. The presenting features were nystagmus (100% of cases) and slowly progressive gait ataxia (95%). Frequent signs and symptoms included pes cavus (82%) and hyposmia (76%); rarer symptoms were hearing loss (33%) and anxiety disorder (33%). The disease progressed with cerebellar symptoms such as limb ataxia, dysarthria, dysphagia, and ophtalmoparesis followed in the later stages by ophtalmoplegia. Peripheral nervous system involvement was present in the last phase of disease with sensory loss. Dementia or extrapyramidal signs were not detected. Significant loss of abilities of daily living was reported only after 20 years of the disease. Brain imaging documented cerebellar atrophy with sparing of cerebral cortex and no white matter disease. CONCLUSIONS: SCA38 is a rare form of inherited ataxia with characteristic clinical features, including pes cavus and hyposmia, that may guide genetic screening and prompt diagnosis in light of possible future therapeutic interventions. Elsevier Science 2016-07 /pmc/articles/PMC4925464/ /pubmed/27143115 http://dx.doi.org/10.1016/j.parkreldis.2016.04.030 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article Borroni, Barbara Di Gregorio, Eleonora Orsi, Laura Vaula, Giovanna Costanzi, Chiara Tempia, Filippo Mitro, Nico Caruso, Donatella Manes, Marta Pinessi, Lorenzo Padovani, Alessandro Brusco, Alfredo Boccone, Loredana Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) |
title | Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) |
title_full | Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) |
title_fullStr | Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) |
title_full_unstemmed | Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) |
title_short | Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) |
title_sort | clinical and neuroradiological features of spinocerebellar ataxia 38 (sca38) |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925464/ https://www.ncbi.nlm.nih.gov/pubmed/27143115 http://dx.doi.org/10.1016/j.parkreldis.2016.04.030 |
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