"In the the juvenile (or Westphal) variant, the clinical presentation has an emphasis on early parkinsonism, cognitive impairment, ataxia, and myoclonus 13."
"frontal horn width to intercaudate distance ratio (FH/CC), which is reduced in Huntington disease"
"MR spectroscopy may demonstrate elevation of lactate, although this can be variably present in location (most often in the basal ganglia) 15,17. There is also a decrease in the NAA/creatine ratio, particularly in the basal ganglia, in keeping with neuronal loss 15,16."
"frontotemporal lobar degeneration, specifically the fused in sarcoma protein variant (FTLD-FUS) 10"
Expected headings
"PET"
"The most striking and best-known feature is that of caudate head atrophy. There is also, however, prominent putaminal volume loss which is usually not as easily recognised on visual inspection but seen well on morphometry 9. This is particularly the case in younger patients, such as those with the juvenile (or Westphal) variant 4. The combination results in enlargement of the frontal horns, often giving them a "box" or "boxcar" like configuration 2-4,18."
"MR spectroscopy may demonstrate elevation of lactate, although this can be variably present in location (most often in the basal ganglia) 15,17. There is also a decrease in the NAA/creatine ratio, particularly in the basal ganglia, in keeping with neuronal loss 15,16."