TY - JOUR T1 - Case report and literature review of Huntington disease with intermediate CAG expansion JF - BMJ Neurology Open JO - BMJ Neurol Open DO - 10.1136/bmjno-2019-000027 VL - 2 IS - 1 SP - e000027 AU - Stefan D Jevtic AU - John P Provias Y1 - 2020/02/01 UR - http://neurologyopen.bmj.com/content/2/1/e000027.abstract N2 - Background Huntington disease (HD) is a genetically inherited neurodegenerative disorder that classically involves a trinucleotide CAG repeat expansion on chromosome 4, with 36 repeats or greater being disease identifying. It generally presents between the age of 30 and 40 years old and is characterised by severe caudate/striatum degeneration with huntingtin protein aggregation. We present here the case of a patient in her early 80s who presented with 5-year history of worsening chorea and family history of HD but an intermediate length CAG expansion.Methods Genetic testing of CAG repeats on chromosome 4. Postmortem brain tissue was obtained and stained using immunohistochemistry for amyloid-beta, tau and glial fibrillary acidic protein (GFAP). Sections from the caudate/putamen were also analysed by p62 immunofluorescence. All sections were reviewed by trained neuropathologists.Results On genetic testing the patient was found to have a 28 CAG repeat on the longest expansion. Microscopic analysis revealed significant neuronal atrophy in the caudate and putamen with gliosis. Immunofluorescent staining demonstrated minimal intranuclear p62 inclusions suggesting little huntingtin aggregation present. Furthermore, there was significant amyloid-beta pathology (Thal-IV stage) and tau involvement in the medial temporal lobe (Braak stage II).Conclusion This case provides clinical and pathological evidence to support an emerging clinical entity involving HD presentation in late age with an intermediate CAG repeat. ER -