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E02 Selective thalamic volume loss in huntington’s disease-like 2; a novel MRI finding compared to huntington’s disease
  1. David G Anderson1,2,
  2. Mark Haagensen3,
  3. Aline Ferreira-Correia4,
  4. Ronald Pierson5,
  5. Jonathan Carr6,
  6. Amanda Krause2,
  7. Russell L Margolis7
  1. 1The University of the Witwatersrand Donald Gordon Medical Centre, Neurology, Johannesburg, South Africa
  2. 2Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa
  3. 3The University of the Witwatersrand Donald Gordon Medical Centre, Radiology Department, Johannesburg, South Africa
  4. 4Department of Psychology, School of Human and Community Development, University of the Witwatersrand. Johannesburg, South Africa
  5. 5Brain Image Analysis, LLC, Simi Valley, CA, USA
  6. 6Division of Neurology, Department of Medicine, University of Stellenbosch, Cape Town, South Africa
  7. 7Departments of Psychiatry and Neurology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA


Background Huntington’s Disease-Like 2 (HDL2) is one of the most common Huntington’s Disease (HD) phenocopies. Clinical similarities between these genetically different diseases are remarkable and the MRIs between them have been indistinguishable.

Objective To compare MRIs between HDL2 and HD against unaffected controls using semiautomated volumetric analysis and morphometry.

Methods Participants with a mixed or African ancestry were enrolled from an area with the world’s highest frequency of HDL2. All MRIs were performed on 1.5T and processed by Brain Image Analysis, LLC as described in previous HD studies. Analysis was done blind to the participants diagnosis.

Results There were nine HDL2, ten HD, and 9 controls enrolled. Volume loss was greater in HDL2 patients when compared to HD, however significantly more thalamic volume loss was seen in HDL2 relative to HD and controls when controlled across multiple covariances.

Conclusion Our findings suggest selective thalamic atrophy in HDL2 compared to HD.

  • Huntington’s disease
  • Huntington’s disease like 2
  • MRI
  • thalamus

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