Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia

Neurologia (Engl Ed). 2019 May;34(4):248-258. doi: 10.1016/j.nrl.2016.06.006. Epub 2016 Jul 25.
[Article in English, Spanish]


Introduction: 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).

Development: 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.

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.

Publication types

  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Cerebellar Ataxia / diagnosis
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / physiopathology
  • Cerebellum / diagnostic imaging
  • Genes, Recessive
  • Humans
  • Magnetic Resonance Imaging / methods
  • Mutation
  • Phenotype
  • Spinocerebellar Ataxias / diagnosis*
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / physiopathology

Supplementary concepts

  • Autosomal Recessive Cerebellar Ataxia Type 1