case_images: PMC10749923_01
case_images: Cortical atrophy in T1 (A,B); symmetric hyperintensity in the bilateral lateral cerebellar hemispheres, predominantly manifested in DWI (C); reversal of the of cerebellar lesions after treatment (D); T1/ enhancement/ T2/ FLAIR image no significant changes in cerebellar (E-H).
case_images: fneur-14-1308289-g001.jpg
case_images: PMC10749923_01_fneur-14-1308289-g001.jpg
case_images: fig1
case_images: Mini-Mental State Examination (MMSE) score of 20, a Montreal Cognitive Assessment (MoCA) score of 18, an International Cooperative Ataxia Rating Scale (ICARS) score of 41, and a Barthel Index (BI) score of 55. MRI revealed cortical atrophy and symmetric hyperintensities in the bilateral lateral cerebellar hemispheres, primarily observed on DWI (Figure 1).
case_images: Results of the MMACHC gene test. Gene variant in c.482G > A and c.609G > A (red arrows). c.609G > A (p.Trp203*) was a nonsense mutation from his mother and c.482G > A (p.Arg161Gln) is a missense mutation derived from the patient's father.
case_images: fneur-14-1308289-g002.jpg
case_images: PMC10749923_01_fneur-14-1308289-g002.jpg
case_images: fig2
case_images: A (p.Trp203*), a nonsense variant inherited from the patient's mother, and c.482G > A (p.Arg161Gln), a missense variant inherited from the patient's father (Figure 2). According to the guidelines established by the American College of Medical Genetics and Genomics (ACMG), these variants were classified as likely pathogenic.