Epidemiology of Cerebellar Diseases and Therapeutic Approaches
- 288 Downloads
Diseases involving the cerebellum occur relatively commonly in children and adults around the globe. Many factors influence their epidemiology including geography, ethnicity, consanguinity, and the methodology used to ascertain patients. In addition, reliable epidemiological data rely heavily on accurate disease classification. Continuous advances in genetic research and neuroimaging modalities have resulted in improved understanding of cerebellar diseases and have led to several revisions in their classification. Recent global epidemiological studies on ataxia reported an estimated overall prevalence rate of 26/100,000 in children, a prevalence rate of dominant hereditary cerebellar ataxia of 2.7/100,000, and a prevalence rate of recessive hereditary cerebellar ataxia of 3.3/100,000. The management of cerebellar diseases is multidisciplinary and multimodal. General supportive and symptomatic therapies should be initiated. Genetic counseling should be offered, where appropriate. Few drugs, specific motor rehabilitation programs, and noninvasive cerebellar stimulation for the treatment of ataxia have been developed and seem to show early promise, but more studies are needed to replicate and fine-tune their benefits further. Some disease-specific treatments are available. For example, acetazolamide or 4-aminopyridine for patients with episodic ataxia type 2 and vitamin E for patients with ataxia caused by vitamin E deficiency.
KeywordsCerebellum Motor coordination Epidemiology Management Treatment
The author thanks the patients and their families, who participated in the Manitoba study, the organizers of the conference, the University of Manitoba, the Health Science Centre Foundation and the Manitoba Medical Service Foundation, the Children’s Hospital Research Institute of Manitoba, and the Children Hospital Foundation. The author also thanks Dr. Fran Booth for her helpful comments on the manuscript.
Compliance with Ethical Standards
Conflict of Interest
The author declares that he has no conflict of interest.
- 1.Pandolfo M, Manto M. Cerebellar and afferent ataxias. Continuum (Minneap Minn). 2013;19(5):1312–43.Google Scholar
- 10.Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. 2010;11(1):1–12.CrossRefPubMedGoogle Scholar
- 19.Fekete R. Ataxia. In: Jankovic J, editor, Greenamyre JT, editor-in-chief. MedLink Neurology. San Diego: MedLink Corporation. Available at https://www.medlink.com. Last updated: 28th October 2015.
- 21.Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M. Pharmacological treatments for Friedreich ataxia. Cochrane Database Syst Rev. 2016;8:CD007791.Google Scholar
- 24.Vogel AP, Folker J, Poole ML. Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. Cochrane Database Syst Rev. 2014;10:CD008953.Google Scholar
- 31.Grimaldi G, Oulad Ben Taib N, Manto M, Bodranghien F. Marked reduction of cerebellar deficits in upper limbs following transcranial cerebello-cerebral DC stimulation: tremor reduction and re-programming of the timing of antagonist commands. Front Syst Neurosci. 2014;8:9.CrossRefPubMedPubMedCentralGoogle Scholar