Epidemiology of inherited cerebellar ataxias and challenges in clinical research

Pilotto, Federica; Saxena, Smita (2018). Epidemiology of inherited cerebellar ataxias and challenges in clinical research. Clinical and translational neuroscience, 2(2), 2514183X1878525. Sage Publications 10.1177/2514183x18785258

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Cerebellar ataxia is a clinically heterogeneous group of disorders, which includes several well-characterized genetic diseases as well as sporadic ataxias. The pathophysiology of ataxia is being understood, and a mechanistic basis for the appearance of these disorders is progressively emerging. Novel genes associated with dominant and recessive ataxias are being steadily identified, and research on their pathomechanisms not only has led to understanding the etiology and underlying cause for the development of ataxia but also has steered the field towards future therapeutic regime, aiming to control and prevent some forms of these diseases. Nevertheless, lack of knowledge for the causation of disease in a sizeable proportion of patient remains, and this issue is further compounded by the rarity of some of these ataxias as well as their restricted geographical distribution. On the other hand, large collaborative studies are providing critical information on the clinical spectrum, progression, and pathophysiology of inherited and sporadic ataxias. In the following sections, we describe the epidemiology, symptoms, pathological progression, and clinical management of various forms of inherited cerebellar ataxias. Finally, we provide a perspective on the challenges faced by the field in translational research and the development of successful therapeutic modalities for patients.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DCR Unit Sahli Building > Forschungsgruppe Neurologie
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)

UniBE Contributor:

Pilotto, Federica and Saxena, Smita


600 Technology > 610 Medicine & health




Sage Publications




Panagiota Milona

Date Deposited:

26 Mar 2019 08:03

Last Modified:

26 Oct 2019 21:57

Publisher DOI:


Uncontrolled Keywords:

Ataxia,spinocerebellar ataxia,episodic ataxia,genetics of cerebellar diseases,mechanisms of Purkinje cell degeneration,therapies





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