MR Definition of Novel White Matter Disorders

Abstract

stem. The cerebellar white matter usually has a mildly abnormal signal intensity without swelling. The clini- cal picture is characterized by macrocephaly within the first year of life. There is a delayed onset of motor dete- rioration, dominated by cerebellar ataxia. The disease has an autosomal recessive mode of inheritance. Our genetic linkage study resulted in the identification of a gene for the disease: MLC1 4