Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

What are the causes of ataxia?

Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.

Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.

Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

Differential diagnosis


  • Alcohol
  • Phenytoin
  • Sedatives
  • Organophosphates


  • Wilson’s disease
  • Hypohyroid
  • Hypothyroid
  • Joubert syndrome (congenital ataxia with hypotonia, and oculomotor ataxia)
  • Vitamin B-12 deficinecy
  • Multiple sclerosis
  • Wernicke’s Encephalopathy
  • Myopathy
  • Hysteria


  • Meningomyelopathy
  • Diabetic neuropathy
  • Cerbral abscess
  • Aids


  • Vertebral-basilar artery ischemia
  • Tabes dorsalis
  • Cerebral neoplasm
  • Head trauma
  • Cerebal hemorrhage
  • Cerbral infarct
  • Paraneoplastic syndrome
  • Guillain-Barre syndrome
  • Frontal lobe lesions

Laboratory work up

The selection of diagnostic tests should be tailored to patients’ clinical presentation:

  • Serum levels of medications to rule out drug-induced ataxia:
    • Phenobarbital
    • lithium
    • Phenytoin
  • vitamin B6
  • vitamin B12 levels
  • thyroid-stimulating hormone (TSH)
  • Heavy metals
    • serum lead levels
    • serum mercury,
  • Infectious reasons:
    • HIV,
    • syphilis,
    • Lyme
    • toxoplasmosis serology
  • anti-GQ1b for Miller Fisher syndrome
  • If hereditary ataxia is suspected,
    • genetic test
    • Vitamin E levels (could be too high or too low)
    • betalipoproteinemia
    • α-fetoprotein (increased)
    • immunoglobulin is be low in ataxia telangiectasia
  • ataxia with oculomotor apraxia type 1
    • serum cholesterol (increased)
    • albumin (decreased)
  • oculomotor apraxia type 2
    • α-fetoprotein (increased0
  • Refsum disease
    • plasma phytanic acid (increased)
  • Cancer screening

Diagnostic tests

  • CT Scan
  • MRI


Although treating the underlying cause is very important in controlling ataxia and worsening of the symptoms, but treatment of ataxia starts with supportive therapy and symptom control.

This may include:

  • speech and language therapy
  • physiotherapy to improve with movement disorders
  • occupational therapy to help you cope with the day-to-day problems
  • medication to control muscle, bladder, heart and eye problems


  1. Gilman S, Gelb DJ. Disorders of the cerebellum.In: Griggs RC, Joynt RJ, eds. Baker’s Clinical Neurology: Lippincott Williams & Wilkins,2003
  2. Abel TW, Baker SJ, Fraser MM, et al. Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway.J Neuropathol Exp Neurol 2005;64:341–49
  3. Bruylant K, Crols R, Humbel RL, et al. Probably anti-Tr associated paraneoplastic cerebellar degeneration as initial presentation of a squamous cell carcinoma of the lung.Clin Neurol Neurosurg2006;108:415–17
  4. Kataoka S, Hori A, Shirakawa T, et al. Paramedian pontine infarction. Neurological/topographical correlation.Stroke 1997;28:809–15
  5. Cormier PJ, Long ER, Russell EJ. MR imaging of posterior fossa infarctions: vascular territories and clinical correlates.Radiographics 1992;12:1079–96
  6. Shah GV, Quint DJ, Trobe JD. Magnetic resonance imaging of suspected cervicocranial arterial dissections.J Neuroophthalmol 2004;24:315–18
  7. Kumar N, Cohen-Gadol AA, Wright RA, et al. Superficial siderosis.Neurology 2006;66:1144–52
  8. Garg M, Gupta RK, Husain M, et al. Brain abscesses: etiologic categorization with in vivo proton MR spectroscopy.Radiology 2004;230:519–27
  9. Kato Z, Kozawa R, Teramoto T, et al. Acute cerebellitis in primary human herpesvirus-6 infection.Eur J Pediatr 2003;162:801–03
  10. De Bruecker Y, Claus F, Demaerel P, et al. MRI findings in acute cerebellitis.Eur Radiol 2004;14:1478–83
  11. Adachi M, Kawanami T, Ohshima H, et al. Cerebellar atrophy attributed to cerebellitis in two patients.Magn Reson Med Sci2005;4:103–07
  12. Mondejar RR, Santos JM, Villalba EF. MRI findings in a remitting-relapsing case of Bickerstaff encephalitis.Neuroradiology 2002;44:411–14
  13. Inoue N, Ichimura H, Goto S, et al. MR imaging findings of spinal posterior column involvement in a case of Miller Fisher syndrome.AJNR Am J Neuroradiol 2004;25:645–48
  14. Ge Y. Multiple sclerosis: the role of MR imaging.AJNR Am J Neuroradiol 2006;27:1165–76
  15. Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations.AJNR Am J Neuroradiol2002;23:1074–87
  16. Alorainy IA, Sabir S, Seidahmed MZ, et al. Brain stem and cerebellar findings in Joubert syndrome.J Comput Assist Tomogr 2006;30:116–21
  17. Valente EM, Marsh SE, Castori M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders.Ann Neurol 2005;57:513–19
  18. Mercuri E, He J, Curati WL, et al. Cerebellar infarction and atrophy in infants and children with a history of premature birth.Pediatr Radiol 1997;27:139–43
  19. Himmelmann K, Hagberg G, Beckung E, et al. The changing panorama of cerebral palsy in Sweden. IX. Prevalence and origin in the birth-year period 1995–1998.Acta Paediatr 2005;94:287–94
  20. Berciano J, Boesch S, Perez-Ramos JM, et al. Olivopontocerebellar atrophy: Toward a better nosological definition.Mov Disord 2006;21:1607–13. Review.
  21. Kerber KA, Jen JC, Perlman S, et al. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations.J Neurol Sci 2005;238:41–45
  22. Koide R, Onodera O, Ikeuchi T, et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings.Neurology 1997;49:1605–12
  23. Bhidayasiri R, Perlman SL, Pulst SM, et al. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.Arch Neurol 2005;62:1865–69
  24. Butch AW, Chun HH, Nahas SA, et al. Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates.Clin Chem 2004;50:2302–08
  25. Tavani F, Zimmerman RA, Berry GT, et al. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI.Neuroradiology2003;45:315–19
  26. Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.AJNR Am J Neuroradiol 2002;23:1757–66
  27. Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.Neurology 2001;57:127–30
  28. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.Cell1991;65:905–14
  29. Geser F, Wenning GK. The diagnosis of multiple system atrophy.J Neurol 2006;253 Suppl 3:iii2–iii15
error: Content is protected !!