Cerebellar Disorders

Clinical Presentation

Cerebellar stroke affects the cerebellum, causing ataxia, dysmetria, and may be associated with apraxia, as noted by the American College of Radiology 1
Lesions of the brainstem, especially those affecting the cerebellar peduncles and tracts, are present in 68-86% of patients with brainstem stroke, according to the American Heart Association 2
Spinocerebellar ataxias are characterized by progressive cerebellar atrophy that produces a triad of symptoms, as reported by the American College of Radiology 3
Thalamic infarcts, pontine lesions, and superficial siderosis can cause ataxia, with varying associated symptoms, according to the American College of Radiology 3
Paraneoplastic cerebellar degeneration and acute cerebellitis present with distinct symptoms, including ataxia, dysarthria, and ocular dysmetria, as noted by the American College of Radiology 3

Ataxia can be classified into three main types based on the affected neurological structures:

Ataxia Type	Characteristics	Likely Cause
Cerebellar ataxia	Wide-based, irregular stepping, variable step length, lateral veering	Cerebellar lesions, spinocerebellar ataxias
Sensory ataxia	High-stepping, stomping gait, worsens with eyes closed	Dorsal column or peripheral nerve disorders
Vestibular ataxia	Lurching gait triggered by head rotation, often with vertigo	Vestibular system dysfunction [3]

The American College of Radiology recommends brain MRI with and without contrast as the first-line modality for evaluating acquired cerebellar ataxia 3
Brain MRI is essential for identifying structural abnormalities, cerebellar atrophy, and characteristic patterns associated with specific genetic ataxias, and should include susceptibility-weighted imaging to detect blood products in conditions like superficial siderosis 1
Laboratory tests, including thyroid function tests, vitamin levels, ceruloplasmin and copper studies, inflammatory markers, and paraneoplastic antibody panel, may be ordered to rule out various causes of ataxia, as recommended by the American Academy of Neurology 4
Genetic testing is critical for definitive diagnosis of hereditary forms, including testing for GAA repeat expansion in FXN gene for Friedreich ataxia and ATM gene testing for ataxia-telangiectasia 5, 6

Multidisciplinary care involving neurology, immunology, pulmonology, gastroenterology, and oncology is necessary for managing progressive cerebellar symptoms, as noted by 5
Management of spinocerebellar ataxias focuses on symptomatic treatment and rehabilitation, including physical therapy, occupational therapy, speech therapy, and adaptive equipment, as recommended by the American College of Radiology 3, 7
Rehabilitation strategies, including teaching patients to avoid rapid multijoint movements, can be beneficial, as recommended by 8, 7
Prognosis varies widely depending on etiology, with hereditary forms typically showing slow progression, acquired forms may stabilize with treatment of underlying cause, and acute cerebellar infarction with appropriate surgical intervention can have good outcomes, as reported by the American Stroke Association 9
The median survival in ataxia-telangiectasia is 19-25 years, with a 20-year survival rate of 53.4%, and the primary causes of death are respiratory diseases and cancer, highlighting the importance of aggressive respiratory management and oncological surveillance, as reported by the European Respiratory Society 10