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Article

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.

American journal of medical genetics. Part A - 1 Mar 2025

Powis Zöe, Lutz Jonathon, Liaquat Khalida, Querubin Jyes A, Batish Sat Dev

Abstract excerpt

Extremely early-onset juvenile Huntington's disease (HD) has been described in three patients with onset at approximately 18 months to 2 years of age. Herein, we report a patient with, to our knowledge, the youngest age of onset with the largest reported explicit expansion size. We also summarize the previously reported cases of extremely early-onset juvenile HD. This information is important to gain insight into...

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PMID: 39441074
DOI: 10.1002/ajmg.a.63894

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