MRI Brain Scans of Patients with Similar Neurodegenerative Symptoms (IMAGE)
Caption
Four rare diseases are characterized by similar symptoms of neurodegeneration. Patients with three of the diseases -- fragile X tremor/ataxia syndrome (FXTAS), neuronal intranuclear inclusion disease (NIID) and oculopharyngeal myopathy with leukoencephalopathy (OPML) -- have similar MRI brain scan images. Patients with a fourth disease, oculopharyngodistal myopathy (OPDM), have normal brain scans, but their muscle tissue has a similar appearance to that of patients with OPML. Researchers suspected that the genetic mutations causing the four diseases must also be similar, even if the mutations were in different genes. After exhaustive genetic sequencing and analysis, researchers in Japan discovered that the same mutation -- CGG noncoding expanded tandem repeats -- in different areas of the genome causes all four diseases.
T2WI: T2 weighted image; DWI: Diffusion weighted image.
DOI: 10.1038/s41588-019-0458-z
Credit
Image by Hiroyuki Ishiura and Shoji Tsuji, CC-BY.
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Image by Hiroyuki Ishiura and Shoji Tsuji, CC-BY.
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