Also known as Tay-Sachs disease. Based on age of presentation their are 3 subtypes
1. Infantile: Classic form
2. Juvenile form: Present in the middle or end of the first decade
3. Adult form
The classic form presents in infancy. Patients who present later in life, with less severe involvement, likely have one severe mutation and one mild mutation. They more slowly build up gangliosides within neurons and glia.
On imaging patients with late-onset forms have little or no white matter or basal ganglia abnormalities. They demonstrate cerebellar atrophy which is more prominent then cerebral hemisphere atrophy. MRS shows reduced NAA in the thalami and cerebral white matter.