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E7 Posturography and mri study in premanifest huntington’s disease subjects to investigate stance abnormalities and early markers of neurodegeneration
  1. Lorenzo Nanetti1,
  2. Simone Nava1,
  3. Valeria Contarino1,
  4. Serena Frittoli1,
  5. Andrea Ciammola2,
  6. Anna Castaldo1,
  7. Maria Grazia Bruzzone1,
  8. Cinzia Gellera1,
  9. Marina Grisoli1,
  10. Caterina Mariotti1
  1. 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  2. 2IRCCS Istituto Auxologico Italiano, Milan, Italy


Objectives Premanifest Huntington’s disease mutation carriers (preHD) are known to present functional and neuroradiological abnormalities before the motor onset. This study evaluated brain morphometry and posture in preHD.

Participants and methods 29 preHD (13F/16 M, mean age 36.5 years, CAG range 37–48) and 25 sex-age matched controls were enrolled (14F/11 M, mean age 35.7 years). Inclusion criteria were: CAG expansion > 36; UHDRS-TMS <5. Subjects underwent 3 T brain MRI (Philips Achieva) for morphometry (T2-weighted images in axial/coronal planes and T1-weighted 3 D Turbo Field Echo sequence). Anatomical data were segmented with FreeSurfer. Postural sway was assessed with a force platform testing the stance in wide/narrow base with open/closed eyes (Kistler, CH). Estimated years to onset was calculated using Langbehn model.

Results PreHD and controls did not differ in total intracranial volume, caudate volumes, and cortical thickness. Only in close-to-onset preHD caudate volumes and occipital cortical thickness were reduced in comparison with controls (p = 0.002; p = 0.0098) and far-from-onset preHD (p = 0.002; p = 0.007). Caudate volumes and occipital cortical thickness directly correlated with years to onset (ρ = 0.58, 0.74; p = 0.003, p < 0.0001 respectively).

Posturography parameters were similar in pre-HD and controls for all conditions, except for wide-base-closed-eyes test, in which preHD presented a greater number of sway peaks (p = 0.006). In close-to-onset preHD the number of sway peaks was greater than controls (p = 0.001) and far-from-onset preHD (p = 0.016).

Conclusions Our study confirms that caudate volumes and occipital cortical thickness are the earliest markers of brain degeneration in the preHD. Posturography may represent a simple and rapid test to investigate early stance abnormalities.

  • PreHD
  • posturography
  • volumetric MRI
  • cortical thickness

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