Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jul 16;9(7):e04547.
doi: 10.1002/ccr3.4547. eCollection 2021 Jul.

An unusual presentation of Huntington's disease

Martin Schulze Westhoff  1 , Alma Osmanovic  2 , Catharina Meissner  1 , Johannes Heck  3 , Nima Mahmoudi  4 , Corinna Hendrich  5 , Georg Berding  6 , Johanna Seifert  1 , Stefan Bleich  1 , Helge Frieling  1 , Tillmann Krüger  1 , Adrian Groh  1
Affiliations
Case Reports

An unusual presentation of Huntington's disease

Martin Schulze Westhoff et al. Clin Case Rep. .

Abstract

We describe the case of a 59-year-old woman who exhibited psychotic symptoms, cognitive dysfunction, and restlessness. While the clinical picture and 18F-FDG PET/CT suggested the presence of a tauopathy, especially frontotemporal dementia or progressive supranuclear palsy, genetic testing eventually revealed Huntington's disease.

Keywords: 18F‐FDG PET/CT; Huntington's disease; frontotemporal dementia; psychosis; tauopathies.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

FIGURE 1
FIGURE 1
T1‐ and T2‐weighted magnetic resonance imaging exhibiting cerebral atrophy with putaminal accentuation and ventriculomegaly
FIGURE 2
FIGURE 2
Statistical parametric maps overlaid to 18F‐FDG PET/CT images showing striatal hypometabolism and occipital hypermetabolism
See this image and copyright information in PMC

References

    1. McColgan P, Tabrizi SJ. Huntington's disease: a clinical review. Eur J Neurol. 2018;25(1):24‐34. - PubMed
    1. Ross CA, Tabrizi SJ. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol. 2011;10(1):83‐98. - PubMed
    1. Macdonald M. A novel gene containing a trinucleotide repeat that is expanded and unstable on huntington's disease chromosomes. the huntington's disease collaborative research group. Cell. 1993;72(6):971‐983. - PubMed
    1. Anderson KE. Huntington's disease. Handb Clin Neurol. 2011;100:15‐24. - PubMed
    1. Martino D, Stamelou M, Bhatia KP. The differential diagnosis of huntington's disease‐like syndromes: ‘Red flags’ for the clinician. J Neurol Neurosurg Psychiatry. 2013;84(6):650‐656. - PMC - PubMed

Publication types

LinkOut - more resources