The article aims to provide a comprehensive review of cerebellar ataxia, focusing on its symptoms, diagnostic methods, genetics, and management.
Recent Findings:
Advancements in genetics have led to the identification of new genetic causes for ataxia. These discoveries have also contributed to a better understanding of the biological pathways essential for normal cerebellar function. When these pathways are dysfunctional, cerebellar ataxia occurs. Clinical trials are ongoing for Friedreich ataxia and spinocerebellar ataxia, and antisense oligonucleotides for spinocerebellar ataxias associated with CAG repeat expansions are considered promising.
Summary:
Cerebellar ataxias are a heterogeneous group of disorders affecting cerebellar function, leading to ataxic symptoms. Step-by-step diagnostic workups, including genetic investigations, are crucial for identifying the underlying causes. Some disease-specific therapies exist, such as vitamin E for ataxia with vitamin E deficiency and thiamine for Wernicke encephalopathy. Genetic diagnosis is important for accelerating clinical trials and has implications for family planning.
Introduction:
The report discusses the challenges in diagnosing and treating cerebellar ataxia. It also mentions that nonmotor symptoms like depression and mood disorders are often underrecognized in patients with ataxia.
Signs and Symptoms:
Ataxia often presents with gait imbalance as the first symptom. Other symptoms include difficulty running, walking in high heels, and veering toward one side. Questions about peripheral neuropathy, parkinsonism, sleep dysfunction, and other symptoms can help in diagnosis.
Neurologic Examination:
The report outlines the neurologic examination procedures for ataxia, focusing on eyes, speech, hands, legs, and gait. Different types of eye movements and speech patterns can indicate specific types of ataxia.
