October 5, 2009 Leave a comment
Blog Post by Mario Ubaldo Manto, University of Brussels, Founding Editor of the journal The Cerebellum and founder of the Society for Research on the Cerebellum
Our knowledge of cerebellar functions and cerebellar disorders has increased dramatically during the past century. New pathophysiological mechanisms have been elucidated during these last decades. With the advent of new technologies, cerebellar disorders are increasingly recognized, and the field of cerebellar symptoms has been extended to cognitive operations and emotions.
Cerebellar disorders are often heterogeneous and the diagnosis may remain a real challenge. A typical example is autosomal dominant spinocerebellar ataxias (SCAs). The prevalence of SCAs is estimated to be 1-4/100,000. Patients exhibit a slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and/or ataxic gait. They can present also with pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioral symptoms) and peripheral neuropathy. SCAs are also genetically heterogeneous and the clinical diagnosis of subtypes of SCAs is complicated by the noticeable overlap of the phenotypes between genetic subtypes.
Many students, biologists, clinicians and researchers often experience difficulties in the discipline of cerebellar diseases because a general framework for the diagnosis and management of cerebellar ataxias is currently missing. Relevant information is often published in papers scattered throughout the scientific literature. There is a need for general guidelines and consensus.
For more information, see Cerebellar Disorders: A Practical Approach to Diagnosis and Management by Manto Mario Ubaldo, published by Cambridge University Press.