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Updated: Jul 30, 2025

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
Pearls & Oy-sters: Huntington Disease Presenting as Primary Progressive Aphasia: A Case of Semantics
Antonia J Clarke1, David Manser2, Ronald Fleischer2
1From the Faculty of Medicine and Health (A.J.C., R.M.A.), University of Sydney; Department of Neurology (A.J.C., D.M., M.F., R.M.A.), Genetics Department (R.F.), and Department of Molecular Imaging (M.F.), Royal Prince Alfred Hospital; and Faculty of Engineering and Computer Science (M.F.), University of Sydney, Australia. antonia.clarke@sydney.edu.au.
Abstract:
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.
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