Abstract
Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them. Autosomal recessive ataxias, which are characterized by neuronal and multisystemic features, have significant overlapping symptoms with other complex multisystemic recessive disorders. The generation of animal models of neurodegenerative disorders increases our knowledge of their cellular and molecular mechanisms and helps in the search for new therapies. Among animal models, the zebrafish, which shares 70% of its genome with humans, offer the advantages of being small in size and demonstrating rapid development, making them optimal for high throughput drug and genetic screening. Furthermore, embryo and larval transparency allows to visualize cellular processes and central nervous system development in vivo. In this review, we discuss the contributions of zebrafish models to the study of autosomal recessive ataxias characteristic phenotypes, behavior, and gene function, in addition to commenting on possible treatments found in these models. Most of the zebrafish models generated to date recapitulate the main features of recessive ataxias.
Highlights
Published: 8 April 2021Hereditary ataxias are a heterogeneous group of rare neurodegenerative disorders caused by progressive degeneration of the cerebellum and spinocerebellar tracts resulting in loss of balance and coordination
Atm mutant embryos did not display the radiosensitivity observed in atm morphant embryos. This is probably due to compensation mechanisms [56]. These results indicate that zebrafish models of atm can be used to analyze the function of ATM in the DNA damage response but not for neurodegeneration
The majority of the zebrafish models discussed here for genes related with recessive ataxias reproduced some of the neuronal and non-neuronal phenotypes observed in human disorders
Summary
Published: 8 April 2021Hereditary ataxias are a heterogeneous group of rare neurodegenerative disorders caused by progressive degeneration of the cerebellum and spinocerebellar tracts resulting in loss of balance and coordination. The development of novel molecular techniques has made it possible to classify ataxias based on genetics [1]. Ataxias can be divided into autosomal dominant, autosomal recessive and X-linked ataxias [2,3]. Unlike autosomal dominant ataxias [4], autosomal recessive ataxias have been less well studied. Autosomal recessive ataxias are more difficult to classify because, contrary to autosomal dominant ataxias, they are not organized with a numerical naming system. The term spinocerebellar ataxia autosomal recessive (SCAR) was recently used to designate novel ataxias, but it is based only on locus discovery and it does not include the previously identified and more frequent recessive ataxias. Many recessive multisystemic or complex metabolic disorders present ataxia as a symptom [2,3].
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