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

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

doi:10.1002/ajmg.a.63894

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

Am J Med Genet A. 2024 Oct 23:e63894. doi: 10.1002/ajmg.a.63894. Online ahead of print.

Authors

Zöe Powis¹, Jonathon Lutz¹, Khalida Liaquat¹, Jyes A Querubin², Sat Dev Batish¹

Affiliations

¹ Genomic Services, Quest Diagnostics, Marlborough, Massachusetts, USA.
² Department of Neurology, West Coast Neurology, Arcadia, California, USA.

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

Abstract

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 this phenotype for earlier diagnosis and in the hopes of future lifesaving treatments.

Keywords: Huntington's disease; chorea; early onset Huntington's disease.

Publication types

Case Reports