Summary We have studied seven patients with Spielmeyer-Vogt disease(SV), aged 11-29 years, using PET and 2-deoxy-2[ l8 F]fluoro-D-glucose. Five patients showed a distinctive age-relatedprogression with decreased metabolic activity starting in thecalcarine area and spreading rostrally to the entire cortex,leaving normal uptake only in the basal ganglia and brainstemof the oldest patients. Calcarine hypometabolism was mildin the youngest patient. All patients, including the youngestwhen the study was repeated 2 years later, had significantlydecreased calcarine metabolic activity fP = 0.002). Twopatients had PET patterns markedly different from the fiveothers, with significantly decreased metabolic activity in mostbrain areas. Both patients may represent a new SV variant.An adult pathological control with congenital amaurosisshowed normal cerebral metabolic activity in all areas. Twopatients had older sisters, one now deceased, the othernot available for study, who presented a rapid regressionassociated with epilepsy. Phenytoin and carbamazepineprobably caused increased seizure activity and fasterregression. The younger siblings treated with phenobarbitalmonotherapy had few seizures and maintained motorfunctions 5-8 years longer compared with their respectivesisters. While the clinical course made obvious that someareas, such as the macula, are damaged before others, theprogression from the calcarine area to the more anteriorregions (but sparing the basal ganglia) provides unexpectedinsights into selective vulnerability of neurons that will allowa more precise way of monitoring individual patients.Key words: Spielmeyer-Vogt; Batten disease; PET; antiepileptic medications
Abstract We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11‐13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenetic and molecular diagnosis of AS. All patients had 6 to 72 hours of closed‐circuit television videotaping and digitized electroencephalographic (EEG) telemetry. Patients from all genotypic classes had characteristic EEGs with diffuse bifrontally dominant high‐amplitude 1‐ to 3‐Hz notched or triphasic or polyphasic slow waves, or slow and sharp waves. Class I patients had severe intractable epilepsy, most frequently with atypical absences and myoclonias and less frequently with generalized extensor tonic seizures or flexor spasms. Epileptic spasms were recorded in AS patients as old as 41 years. Aged‐matched class II, III, and IV patients had either no epilepsy or drug‐responsive mild epilepsy with relatively infrequent atypical absences, myoclonias, or atonic seizures. In conclusion, maternally inherited chromosome 15q11‐13 deletions produce severe epilepsy. Loss‐of‐function UBE3A mutations, uniparental disomy, or methylation imprint abnormalities in AS are associated with relatively mild epilepsy. Involvement of other genes in the chromosome 15q11‐13 deletion, such as GABRB3, may explain severe epilepsy in AS.
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