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Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat



We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis. © 2005 Movement Disorder Society