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Iowa State University of Science and Technology (Iowa)
David Nai, PrithaGhosh, MD, Ph.D, Mark Hallett, MD, Ph.D and Abhik Ray-Chaudhury, MD.
Ataxias, a group of movement disorders, cause great morbidity for their sufferers. Episodic ataxias are a family of paroxysmal ataxias which are inherited in an autosomal dominant fashion. The ictal symptoms of episodic ataxia type 4 include uncoordinated movements, nystagmus, dizziness, vertigo, defective smooth pursuit and inability to suppress the vestibule-ocular reflex. Morphological cerebellar changes were observed in a brain from a 90-year-old who had suffered from episodic ataxia type 4. These included pronounced loss of Purkinje cells, especially in the cerebellar vermis, reduction of the normal dendritic arborization with presence of abnormal, swollen dendrites in remaining Purkinje cells. Additionally, classicalLewy bodies were identified in the locus ceruleus (Pons) and substantianigra (midbrain). Exome sequencing of the episodic ataxia 4 kindreds is of crucial importance in identifying the cause of the disease.
Last Modified November 27, 2013