Case 29 - Young woman with abnormal movements but no family history

Summary

This chapter talks about a 45-year-old right-handed woman who was admitted to a Neurology clinic with several years of cognitive difficulty. She has a long-standing history of depression, which has been fairly well-controlled on sertraline 100mg daily. There are no other chronic medical problems or regular medications. CT of the head demonstrated very mild generalized atrophy with more pronounced atrophy of the head of the caudate nucleus. The initial diagnostic impression was Huntington disease, despite the lack of a clear family history. Genetic testing was performed, which demonstrated an expansion of the CAG repeat region in the huntingtin gene on chromosome 4. Additionally, a more thorough family history revealed that her father and several of his relatives had involuntary movements. Huntington disease (HD) is a neurodegenerative disease characterized clinically by the triad of a movement disorder, dementia, and behavioral disturbances.