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Families Affected by Choreoathetosis, Epilepsy, and Cerebral Volume Loss
(A) A total of eight individuals (one deceased) from four unrelated families are affected by this progressive neurological disease.
(B) Brain MRI shows diffuse cortical and cerebellar volume loss (long arrows), ex vacuo ventriculomegaly and flattening of the heads of the caudate nuclei (short arrows), and periventricular FLAIR (fluid attenuation inversion recovery) hyperintense signal (arrowheads).
