Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). (July 2016)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Parkinsonism & related disorders. Volume 28(2016)
• Page Start: 80
• Page End: 86
• Publication Date: 2016-07
• Subjects: SCA38 -- ELOVL5 -- Gene -- Mutation -- Ataxia; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2016.04.030
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: 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. Highlights: SCA38, due to ELOVL5 gene mutation, is a rare form of inherited ataxia. Characteristic clinical features include pes cavus and hyposmia. Limb ataxia, dysarthria, dysphagia, and ophtalmoparesis were observed during disease course. SCA38 is slowly progressive; loss of activities of daily living were observed only after 20 years. Imaging documented cerebellar atrophy with sparing of cerebral cortex.