title: Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).
abstract: 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.
  
  
  
  The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. Electronic address: bborroni@inwind.it.
authors.forename: Barbara
authors.initials: B
authors.lastname: Borroni
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Di Gregorio
authors.affiliation: Neurologic Division 1, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Orsi
authors.affiliation: Neurologic Division 1, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Vaula
authors.affiliation: Neurology Unit, Cremona Hospital, Cremona, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Costanzi
authors.affiliation: Neuroscience Institute Cavalieri Ottolenghi (NICO) and Department of Neuroscience, University of Turin, Turin, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Tempia
authors.affiliation: Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
authors.forename: Nico
authors.initials: N
authors.lastname: Mitro
authors.affiliation: Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Caruso
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Manes
authors.affiliation: Neurologic Division 1, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinessi
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.affiliation: Ospedale Regionale Microcitemie, ASL 8, Cagliari, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Boccone
mesh_terms: D000123:Acetyltransferases; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002525:Cerebellar Cortex / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology*; D018450:Disease Progression; D000081031:Fatty Acid Elongases; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*
chemical_list: C000630954:ELOVL5 protein, human; D000123:Acetyltransferases; D000081031:Fatty Acid Elongases
keywords: Ataxia; ELOVL5; Gene; Mutation; SCA38