Brain hypometabolism in rare genetic neurodegenerative disease: Niemann-Pick disease type C, spinocerebellar ataxia and Huntington disease assessed by FDG PET.

Brain metabolic imaging using ¹⁸F-fluorodeoxyglucose (FDG) Positron Emission Tomography (PET) with contemporaneous low-dose CT may be used to assess neurodegenerative diseases. In contrast to oncology whole-body FDG PET, qualitative assessment alone in brain FDG PET is subjective and vulnerable to visual interference due to high physiologic background activity. Therefore, mild changes in brain metabolism may be visually undetectable by qualitative interpretation alone, resulting in diagnostic inaccuracy. To overcome this, some institutions may employ an objective comparison to a normal reference database. To date, there is limited literature describing brain metabolic changes in rare genetic neurodegenerative diseases such as Niemann-Pick disease Type C, spinocerebellar ataxia and Huntington disease. In this case series, we illustrate the typical FDG PET findings in the cortex and deep grey matter for these rare diseases, utilising normal database comparison including three dimensional Stereotactic Surface Projection (3D-SSP) mapping. These comparisons can generate 3D-SSP maps where metabolic changes may be expressed in standard deviations from normal (z-score) and visually depicted in a scale of colours to improve diagnostic accuracy.