A Durr - The Lancet Neurology, 2010 - thelancet.com
Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the associated genes has provided insight into the mechanisms that could underlie other forms …
L Schöls, P Bauer, T Schmidt, T Schulte… - The Lancet …, 2004 - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
This classic text is a comprehensive, detailed guide to the neurologic examination. The book provides a thorough understanding of both the techniques of the examination and the …
A large number of neurodegenerative diseases in humans result from protein misfolding and aggregation. Protein misfolding is believed to be the primary cause of Alzheimer's disease …
S Jayadev, TD Bird - Genetics in Medicine, 2013 - Elsevier
The hereditary ataxias are a highly heterogeneous group of disorders phenotypically characterized by gait ataxia, incoordination of eye movements, speech, and hand …
K Nakamura, SY Jeong, T Uchihara… - Human molecular …, 2001 - academic.oup.com
Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese …
JB Martin - New England Journal of Medicine, 1999 - Mass Medical Soc
Neurodegenerative disorders, which are chronic and progressive, are characterized by selective and symmetric loss of neurons in motor, sensory, or cognitive systems. Delineation …
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders characterized by degeneration of the cerebellum and its connections. All ADCAs …