Article
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.
Neuroradiology - 1 Oct 2016
Al-Maawali A, Yoon G, Feigenbaum A S, Halliday W C, Clarke J T R, Branson H M, Banwell B L, Chitayat D, Blaser Susan I
Abstract excerpt
INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and clinical presentation in INAD is variable. Typically described imaging features of cerebellar atrophy,...
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