Spielmeyer-Vogt (Batten, Spielmeyer-Sjögren) disease

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Abstract
We have studied seven patients with Spielmeyer-Vogt disease showed normal cerebral metabolic activity in all areas. Two (SV), aged 11–29 years, using PET and 2-deoxy-2[l8F]fluoro- patients had older sisters, one now deceased, the other D-glucose. Five patients showed a distinctive age-related not available for study, who presented a rapid regression progression with decreased metabolic activity starting in the associated with epilepsy. Phenytoin and carbamazepine calcarine area and spreading rostrally to the entire cortex, probably caused increased seizure activity and faster leaving normal uptake only in the basal ganglia and brainstem rgression. The younger siblings treated with phenobarbital of the oldest patients. Calcarine hypometabolism was mild monotherapy had few seizures and maintained motor in the youngest patient. All patients, including the youngest functions 5–8 years longer compared with their respective when the study was repeated 2 years later, had significantly sisters. While the clinical course made obvious that some decreased calcarine metabolic activity (P = 0.002). Two areas, such as the macula, are damaged before others, the patients had PET patterns markedly different from the five progression from the calcarine area to the more anterior others, with significantly decreased metabolic activity in most regions (but sparing the basal ganglia) provides unexpected brain areas. Both patients may represent a new SV variant. insights into selective vulnerability of neurons that will allow An adult pathological control with congenital amaurosis a more precise way of monitoring individual patients.

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