Concepedia

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

Spiridon Papapetropoulos, Roberto Lopez‐Alberola, Lisa Baumbach, Angela J. Russell, Manuel A. González, Brian C. Bowen, Carlos Singer

Movement Disorders · 2005 · 15 citations · 19 references

DOI

Concepts

Abstract

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.

References

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