Article
Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2018
Ishikawa Hidehiro, Niwa Atsushi, Asahi Masaru, Matsuura Keita, Masuzugawa Satoshi, Niida Yo, Maeda Masayuki, Kondo Mineo, Tomimoto Hidekazu
Abstract excerpt
Tuberous sclerosis complex (TSC) 1 or TSC2 is mutated in most TSC patients. TSC2 mutations are more frequently associated with worse outcomes, earlier age at seizure onset, more severe intellectual disability, and higher tuber load than TSC1. The degree of white matter involvement is thought to be associated with the severity of neurological impairment. At present, genotype-phenotype correlations and relationship...
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