(Medical Xpress)—The relationship between fine-scale structure and function in the brain is perhaps best explored today by the study of neurodegenerative disease. Disorders like Rett syndrome may be considered developmental in origin—and defined by exotic mechanisms including X-linked inactivation, DNA methylation, and genomic imprinting—but even here, its larger physical pathology evolves through the course of life and continues to be revealed in almost any place that researchers look. When diseases directly involve inputs to the brain like vitamin or diet, and can also be controlled by them, things get even more interesting. More often than not, these disorders have a clear genetic component, are frequently linked to the mitochondria, and lead to progressive and often perplexing deficits of movement. One such enigma is known as pantothenate kinase-associated neurodegeneration, or PKAN syndrome, in its the most frequent form. A recent open paper in the journal Brain explains.
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