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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
Published on: December 10, 2021
Juvenile Huntington disease
Nimeshan Geevasinga1, Fiona H Richards, Kristi J Jones
1T.Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, NSW, Australia.
Abstract:
Huntington disease (HD) is a dominantly inherited neurodegenerative disorder related to expansion of a triplet repeat sequence in the huntington gene on chromosome 4. Adult HD usually presents with chorea and personality changes. Juvenile HD is far less common and presents with parkinsonism, dystonia and seizures. We report a case of juvenile HD, showing extreme anticipation, in which diagnosis was delayed because of failure to recognise the significance of the family history and the characteristic clinical and radiologic features of this condition.
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