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Hereditary and Acquired Cerebellar Ataxias 

Hereditary and Acquired Cerebellar Ataxias
Chapter:
Hereditary and Acquired Cerebellar Ataxias
Author(s):

George Koutsis

and Nicholas W. Wood

DOI:
10.1093/med/9780199609536.003.0027
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date: 21 October 2021

‘Cerebellar ataxia’ refers to a clinical syndrome caused by damage to the cerebellum and its connections and characterized by lack of coordination most evident in gait, use of the extremities, speech, and ocular movement. Although individual ataxic disorders are relatively rare, the ataxias as a whole represent a common clinical problem. Acquired ataxias are the most frequent, but heredoataxias also contribute a substantial proportion of cases. Over the past two decades, neuroimaging and molecular genetics have revolutionized the field, shedding light on the aetiology of these diverse disorders.

The differential diagnosis of cerebellar ataxia is complex and consists of an extensive list of acquired and an ever-expanding list of recognized hereditary causes. Acquired causes include viral cerebellitis, space-occupying lesions, multiple sclerosis, alcoholic cerebellar degeneration, drug toxicity, paraneoplastic cerebellar degeneration, superficial siderosis, multiple system atrophy, and idiopathic late-onset cerebellar ataxia. Hereditary causes include inborn errors of metabolism, episodic ataxias, autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias (also known as spinocerebellar ataxias), X-linked ataxias, and mitochondrial ataxias. A systematic approach based on relatively straightforward clinical rules can be a useful guide to the diagnostic process. Determining the age of onset can limit the differential to congenital, early-onset (<25 years) and late-onset (> 25 years) causes. Clarifying the mode of onset can further narrow down the list to acute-onset, subacute-onset, and insidious-onset causes. The presence of a non-progressive, intermittent, or progressive course can focus the diagnosis further. Deciding whether an acquired or hereditary cause should be sought reduces the differential to a manageable list. Finally, specific information gathered from the history, the examination (including extracerebellar and extraneural findings), and routine or directed investigations allows the correct diagnosis to be made in most cases.

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