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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
[The case of a 86-years old woman first diagnosed with Huntington's disease]
1Bezirkskrankenhaus Schloss Werneck. ms.jaehnel@t-online.de
Abstract:
This is the rare case of a woman first diagnosed with Huntington's disease at the age of 86. She was first seen at our hospital in 1999 for evaluation of dementia. Prior to her hospitalization, she had been treated with Melperone for restlessness. There was no essential psychopathology other than mild dementia (MMSE 21). A neurological work-up identified generalized involuntary movements and genetic testing revealed 40 CAG repeats. Over the course of the next several years, the patient began to exhibit the full range of symptoms associated with Huntington's disease, such as severe involuntary movements and progressive dementia. In the end, she was bed-ridden and only able to utter a few unintelligible words and she succumbed to an infection in 2003 at the age of 89, almost 4 years after her initial diagnosis of Huntington's disease. This case points to the need to consider Huntington's disease as a differential diagnosis even when evaluating the geropsychiatric population. It is particularly important to isolate involuntary movements which cannot be attributed to tardive dyskinesia in those who have been treated with neuroleptics in the past.
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