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Despite the critical importance of the cerebellum in brain
function, the scientific community still lacks effective treatments
for most cerebellar ataxias. This book provides  a
link between the pathogenesis and therapies of cerebellar ataxias
while also providing a comprehensive assessment of the preclinical
and clinical trials dedicated to cerebellar ataxias over the past
20 years of progress. Â This is the first book fully dedicated
to the trials and therapies of these disorders. It is a truly
authoritative and comprehensive reference, and comes at a time of
major advances in genetic tools and neuroimaging assessments.
 The coverage begins by laying a foundation of the basic
science of the cerebellum and ataxias, proceeds to discuss
biomarkers and the tools of trials, offers guidelines on conducting
trials, Â and then explores the full range of therapeutics and
their trials, including gene therapy and cell transplantation. The
authors are top experts on cerebellar research and the contributing
authors have all made seminal contributions in the field.
Neurogenetics is intended for any physician or scientist who
manages patients with inherited diseases of the nervous system. It
presents the clinical phenotypes of the most commonly inherited
neurologic diseases, and their molecular pathogenesis, followed by
a description of the appropriate
tests to be used in diagnosis. Two introductory chapters
familiarize the nongeneticist with medical genetic terminology and
molecular genetic techniques useful in the analysis of genetic
disease and genetic testing. Subsequent chapters examine major
neurologic disorders caused by single defects,
as well as disease phenotypes such as Alzheimer disease or
amyotrophic lateral sclerosis which may be caused by defects in
single genes, but may also be seen as sporadic diseases. The
genetic components of other common neurologic disorders, such as
epilepsy, multiple sclerosis, migraine, and stroke
are all covered in detail. The final chapter discusses genetic
counseling of symptomatic and pre-symptomatic individuals.
Throughout, chapters discuss genotype/phenotype correlations and,
where appropriate, animal models for inherited human neurologic
diseases. Several chapters are devoted to
recently discovered diseases caused by unstable DNA repeats.
Special emphasis is placed on conveying how DNA testing can be
applied to the daily practice of geneticists and neurologists.
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