Abstract
Cerebellar ataxias (CAs) manifest with a combination of motor incoordination, cognitive, affective and recently identified social symptoms. Novel therapies aim to stop the progression of the subgroup of the degenerative ataxias, or even to cure the disease with a functional and anatomical restoration of the cerebellar circuitry in the near future. The goal of stopping the progression of the disease is particularly relevant if applied at a very early stage of the disease, when the cerebellar reserve is only slightly impaired. Therefore, the search of the prodromal phase or pre-ataxic stage of CAs represents a very important challenge for the scientific community. The identification of pre-manifest individuals and the recruitment of individuals at risk has become a key-challenge to address neuroprotective therapies. The feasibility is high due to the recent progress in the biological and morphological biomarkers of CAs.
Highlights
Turning Cerebellar Ataxias from Incurable to Treatable DiseasesCerebellar ataxias (CAs) represent a highly heterogeneous group of neurological disorders with a core group of clinical manifestations embracing motor incoordination, cognitive and affective symptoms, and social deficits [1]
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Antisense oligonucleotides (ASOs) represent an example of a very promising approach to revert the course of the disease even before the occurrence of symptoms [4,5]
Summary
Cerebellar ataxias (CAs) represent a highly heterogeneous group of neurological disorders with a core group of clinical manifestations embracing motor incoordination, cognitive and affective symptoms, and social deficits [1]. Extra-cerebellar neurodegeneration causes disabilities and a reduction in life expectancy [2]. This is typically the case for spinocerebellar ataxias (SCAs), a subgroup of ataxic disorders which currently gather 48 sub-types. SiRNA, miRNA and CRISPR-based techniques are being validated in animal models of CAs. Antisense oligonucleotides (ASOs) represent an example of a very promising approach to revert the course of the disease even before the occurrence of symptoms [4,5]. ASOs suppress aggresome formation in a human embryonic stem cell (hESC) line derived from an embryo harboring the SCA3 mutation [7]
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