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Chapter 47 - Treatable Hereditary Cerebellar Ataxias

from Section 4: - Dyscoordinative and Otherwise Inappropriate Motor Behaviors

Published online by Cambridge University Press:  07 January 2025

By
Mitesh Chandarana  and
Asha Kishore
Edited by
Erik Ch. Wolters  and
Christian R. Baumann
Erik Ch. Wolters
Affiliation:
Universität Zürich
Christian R. Baumann
Affiliation:
Universität Zürich
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Summary

Hereditary cerebellar ataxia (HA) are a heterogeneous group of disorders characterized by the presence of slowly progressive gait ataxia, dysarthria and other cerebellar signs. Detailed clinical history and neurologic as well as systemic examination are key to accurate diagnosis and hierarchical diagnostic investigations. The initial diagnostic evaluation of patients with HA should include a detailed assessment to rule out acquired treatable etiologies. If such a detailed screening is inconclusive, investigations should be directed towards hereditary causes of cerebellar ataxias. Early diagnosis and treatment can lead to favorable outcomes. Disease-specific therapies have emerged for various cerebellar ataxia syndromes including hereditary ones. Despite these advances, management of the majority of HA remains symptomatic. Moreover, there are no US FDA-approved medications for HAs to date. However, there are a few progressive HA conditions that can improve with disease-specific treatment, particularly if initiated early in the disease course. Here, we discuss various hereditary cerebellar ataxia syndromes that are amenable to disease-specific/targeted treatment.

Keywords

Cerebellar ataxiatreatable ataxiaataxiagenetic ataxiahereditary ataxia
Type
Chapter
Information
International Compendium of Movement Disorders , pp. 592 - 599
Publisher: Cambridge University Press
Print publication year: 2025

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