Abstract
Ataxias are a complex and heterogeneous group of disorders characterized by the absence of order and coordination of voluntary movements and loss of equilibrium. The major clinical criteria for diagnosis include disease extension (focal vs non focal), etiology (hereditary vs symptomatic or idiopathic), progression rate, age at onset, and neurological and systemic symptoms that support the diagnosis of specific disorders. Age at onset is a very important clinical tool that along with inheritance are useful address the proper differential diagnosis. In this way three major categories of cerebellar ataxias may be recognized: (i) congenital ataxias in infancy and young children (<2 years), (ii) early-onset in childhood, adolescence and young adulthood (<25 years), and (iii) late-onset cerebellar ataxias.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366:636–646
Bird TD (2016) Hereditary ataxia overview. 1998 Oct 28 [updated 2016 Mar 2016]. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews® [internet]. University of Washington, Seattle, pp 1993–2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1138/
Dürr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9:885–894
Dürr A, Cossée M, Agid Y et al (1997) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169–1175
Fogel BL, Perlman S (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6:245–257
Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151–1155
Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1–14
Klockgether T (2010) Sporadic ataxia with adult onset: classification and diagnostic criteria. Lancet Neurol 9:94–104
Mancuso M, Orsucci D, Siciliano G, Bonuccelli U (2014) The genetics of ataxia: through the labyrinth of the Minotaur looking for Ariadne’s thread. J Neurol 261(Suppl 2):S528–S541
Palau F, Espinós C (2006) Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1:47
Palau F, Espinós C (2013) Approach to the differential diagnosis of cerebellar ataxias. In: Manto M, Gruol DL, Schamahmann JD, Koibuchi N, Rossi F (eds) Handbook of the cerebellum and cerebellar disorders. Springer + Business Media, Dordrecht, pp 1799–1817
Vermeer S, van de Warrenburg BPC, Willemsen MAAP, Cluitmans M, Scheffer H, Kremer BP, Knoers NVAM (2011) Autosomal recessive cerebellar ataxias: the current state of affairs. J Med Genet 48:651–659
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Palau, F., Arpa, J. (2016). Differential Diagnosis of Cerebellar Ataxias on the Basis of the Age at Onset. In: Gruol, D., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J., Shen, Y. (eds) Essentials of Cerebellum and Cerebellar Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-24551-5_70
Download citation
DOI: https://doi.org/10.1007/978-3-319-24551-5_70
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-24549-2
Online ISBN: 978-3-319-24551-5
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)