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Brain white and gray matter alterations in early-stage Parkinson’s disease with GBA1 gene mutations evaluated using free water imaging

Christina Andica¹, Koji Kamagata¹, Masahiro Abe¹, Wataru Uchida^1,2, Yuya Saito¹, Hayato Nozaki^1,2, Kaito Takabayashi¹, Masaaki Hori³, and Shigeki Aoki¹
¹Department of Radiology, Juntendo University Graduate School of Medicine, Tokyo, Japan, ²Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan, ³Department of Radiology, Toho University Omori Medical Center, Tokyo, Japan

Using free water imaging, we showed the role of GBA1 mutations in early-stage drug-naïve Parkinson’s disease, including brain compensatory mechanisms and neuroinflammation, which provides opportunities for developing disease-modifying therapies and disease progression biomarkers.

Figure 3. Box plots of FW for the HC, GBA-PD, and iPD groups in Braak stages III and IV. The bottom and top of the box are the first and third quartiles, and the thick band inside the box is the median. Whiskers represent maximum and minimum values of all data.

Abbreviations: FW, free water, GBA-PD, Parkinson’s disease with GBA1 mutations; HC, healthy controls; and iPD, idiopathic Parkinson’s disease.

Figure 2. Box plots and tract profiles of FA_T, MD_T, and FW for HC, GBA-PD, and iPD groups in the white matter pathways.

Abbreviations: ATR, anterior thalamic radiation; CCG, cingulum cingulate gyrus; FA_T, free water-corrected fractional anisotropy; Fmajor, forceps major; Fminor, forceps minor; FW, free water; GBA-PD, Parkinson’s disease with GBA1 mutations; HC, healthy controls; ILF, inferior longitudinal fasciculus; iPD, idiopathic Parkinson’s disease; MD_T, free water-corrected mean diffusivity; UF, uncinate fasciculus.