We present a case of semantic variant primary progressive aphasia as the presenting feature in a patient with Huntington disease (HD). The patient initially developed progressive language impairment including impaired naming and object knowledge and single-word comprehension and then developed chorea and behavioral changes. An MRI of the brain showed left anterior temporal lobe and hippocampal atrophy. A neurologic FDG PET/CT showed reduced metabolism in the head of the left caudate nucleus. Huntingtin gene testing revealed an expansion of 39 CAG repeats in 1 allele. This case outlines the substantial overlap between the clinical presentation of HD and frontotemporal lobar degeneration syndromes and provides commentary on the investigation of these neurodegenerative diseases.
© 2023 American Academy of Neurology.