title: Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
abstract: BACKGROUND
  Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities).
  
  
  METHODS
  This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis.
  
  
  CONCLUSIONS
  A thorough assessment of clinical phenotype (pure cerebellar or cerebellar-plus syndrome, with or without systemic manifestations), laboratory tests (vitamin E, acanthocytosis, albumin, cholesterol, phytanic acid, lactic acid, creatine kinase, cholestanol, coenzyme Q10, alpha-fetoprotein, copper, ceruloplasmin, chitotriosidase), nerve conduction studies (presence and type of neuropathy), and an magnetic resonance imaging study (presence of cerebellar atrophy, presence and location of signal alterations) may help establish a suspected diagnosis, which should be confirmed by detecting the underlying genetic mutation. A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some entities (abetalipoproteinaemia, ataxia with vitamin E deficiency, Refsum disease, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, Wilson disease). Without a genetic diagnosis, conducting basic research and therapeutic trials will not be possible.
authors.affiliation: Servicio de Neurología, Complexo Hospitalario Universitario, Santiago de Compostela, España. Electronic address: manuel.arias@usc.es.
authors.forename: M
authors.initials: M
authors.lastname: Arias
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002531:Cerebellum / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
keywords: Ataxia de Friedreich; Ataxia telangiectasia; Ataxia-telangiectasia; Ataxias recesivas; Enfermedad de Niemann-Pick-tipo C; Enfermedad de Refsum; Enfermedad de Wilson; Friedreich ataxia; Niemann-Pick disease type C; Recessive ataxia; Refsum disease; Wilson disease