The Cerebellum

, Volume 11, Issue 4, pp 821–827 | Cite as

The Ever Expanding Spinocerebellar Ataxias. Editorial



The spinocerebellar ataxias (SCAs) are a clinically, genetically, and neuropathologically heterogeneous group of neurological disorders defined by variable degrees of cerebellar ataxia often accompanied by additional cerebellar and non-cerebellar symptoms that, in many cases, defy differentiation based on clinical characterisation alone. The clinical symptoms are triggered by neurodegeneration of the cerebellum and its relay connexions. The current identification of at least 43 SCA subtypes and the causative molecular defects in 27 of them refine the clinical diagnosis, provide molecular testing of at risk, a/pre-symptomatic, prenatal or pre-implantation and facilitate genetic counselling. The recent discovery of new causative SCA genes along with the respective scientific advances is uncovering high complexity and altered molecular pathways involved in the mechanisms by which the mutant gene products cause pathogenesis. Fortunately, the intensive ongoing clinical and neurogenetic research together with the applied molecular approaches is sure to yield scientific advances that will be translated into developing effective treatments for the spinocerebellar ataxias and other similar neurological conditions.


Spinocerebellar ataxias Cerebellum Neurodegeneration Movement disorders Purkinje cells Polyglutamine expansions Molecular diagnosis Genetic counselling Ataxia scales Rehabilitation Therapy 



Autosomal dominant spinocerebellar ataxia


Attention deficit/hyperactivity disorder


Ataxia with deafness, narcolepsy, and optic atrophy


Autosomal dominant sensory ataxia


ATPase family gene 3-like 2


Actin-related protein-1












Ataxin-8 opposite strand


Calcium ion


Brain expressed associated NEDD4


Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit


Calcium channel, voltage-dependent, subunit beta 4


DNA sequence coding for glutamine


Dentatorubral-pallidoluysian atrophy


Episodic ataxia


Excitatory amino acid transporter 1


European Molecular Quality Genetics network


Fibroblast growth factor 14


HUGO Gene Nomenclature Committee


Interferon-related developmental regulator gene 1


Inventory of non-ataxia symptoms


Inositol triphosphate receptor


Potassium ion


Potassium voltage-gated channel, shaker-related subfamily, member 1


Potassium voltage-gated channel subfamily C member 3


Machado–Joseph disease


Ribonucleoprotein homolog yeast


Organisation for Economic Co-operation and Development




Serine/threonine protein phosphatase 2 (formerly 2A) 55 kDa regulatory subunit B beta isoform


Protein kinase C gamma


Scale for the Assessment and Rating of Ataxia


Spinocerebellar ataxia


Sodium channel, voltage gated, type VIII, alpha subunit


Solute carrier family 1 member 3


Autosomal dominant spastic ataxia


Beta-III spectrin


TATA box binding protein


Thymidine kinase 2


Tau tubulin kinase-2



Dr. Ivelisse Sanchez’s helpful comments and suggestions are kindly acknowledged. Dr. Antoni Matilla’s scientific research on ataxias is funded by the Spanish Ministry of Science and Innovation (BFU2008-00527/BMC), the Carlos III Health Institute (CP08/00027), the Latin American Science and Technology Development Programme (CYTED) (RIBERMOV, 210RT0390), the European Commission (EUROSCA project, LHSM-CT-2004-503304), and the Fundació de la Marató de TV3 (Televisió de Catalunya, 100730). We are indebted to the Spanish Ataxia Association (FEDAES), the Spanish Federation for Rare Diseases (FEDER), and the ataxia patients for their continuous support and motivation. Antoni Matilla is a Miguel Servet Investigator in Neurosciences of the Spanish National Health System.

Conflict of interest

None declared.


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Further Reading

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    Matilla-Dueñas A, Serrano C, Alvarez R, Ivánovic-Barbeito YP, Latorre P, Genís D. Novel therapeutic challenges in cerebellar diseases. In: Manto M, Gruol DL, Schmahmann JD, Koibuchi N, Rossi F, editors. Handbook of the cerebellum and cerebellar disorders. New York: Springer; 2012.Google Scholar
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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Basic, Translational and Molecular Neurogenetics Research Unit in Neurodegenerative Diseases, Department of Neurosciences, Health Sciences Research Institute Germans Trias i Pujol (IGTP)Universitat Autònoma de BarcelonaBadalonaSpain

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