Title:Treatment and Management of Autosomal Recessive Cerebellar Ataxias:
Current Advances and Future Perspectives
Volume: 22
Issue: 5
Author(s): Ikhlass H. Salem, Marie Beaudin, Christopher J. Klein and Nicolas Dupré*
Affiliation:
- Faculté de Médecine, Université Laval, Québec, GIV OA6, Canada
- Département de Médecine, Centre Hospitalier Universitaire
de Québec, Québec, Canada
Keywords:
Recessive ataxia, treatment management, rehabilitation therapy, neurostimulation, disease-modifying therapy, gene therapy, neurotransplantation.
Abstract: The autosomal recessive cerebellar ataxias (ARCAs) compose a clinically and genetically
heterogeneous group of neurodegenerative diseases characterized by prominent cerebellar ataxia,
dysmetria, dysarthria, and nystagmus that are inherited in an autosomal recessive fashion. The diagnosis
of ARCAs is challenging because of their low prevalence, poor medical recognition, and heterogeneous
clinical presentation with many overlapping features between entities. There currently exist no
disease-modifying therapies for most ARCAs, and treatment is mainly symptomatic, aimed at prolonging
independence and maintaining the quality of life. As knowledge of the common pathogenic pathways
underlying several ARCAs grows, so do these pathways to target with new drugs. Chelation or
enzyme replacement therapies are available for some specific ataxias caused by amenable metabolic
alterations. A large number of drug trials are ongoing and aim to identify new therapeutic approaches
to expand the options in our repertoire. Improved protocols of motor rehabilitation and noninvasive
cerebellar stimulation have been shown to delay disease progression and maintain quality of life. Furthermore,
recent progress in gene and molecular targeting therapies is rapidly expanding and holds
promise for repairing defective genes. Neurotransplantation of grafted stem cells, which is still at the
experimental preclinical stage, has opened new therapeutic strategies aimed at delaying cell degeneration
and facilitating compensatory functions. This article is an overview of the current management
and treatment strategies with an emphasis on promising perspectives for patients with ARCAs.
