1/2. Type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl.An 11-year-old Japanese girl was diagnosed as having type 3 GM1 gangliosidosis by clinical symptoms and enzyme assay. She was the youngest among the patients with type 3 GM1 gangliosidosis whose clinical and neuroradiological findings have been documented. Clumsiness since early infancy and dystonia since early childhood which progressed slowly without mental deterioration and dysmorphism led us to the diagnosis of type 3 GM1 gangliosidosis. genotype determination showed point mutation in exon 2 of the beta-galactosidase gene, which is common among the patients reported in japan. T2-weighted MRI demonstrated bilateral symmetrical hypointensity in the putamen and globus pallidus. Single photon emission computed tomography using 99mTc-HMPAO showed bilateral hyperperfusion in the basal ganglia which decreased gradually during 1 year of observation. Twenty-two patients with type 3 GM1 gangliosidosis reported in the literature whose onset was at under 15 years of age were reviewed.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
2/2. adult GM1 gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case.We report neuropathologic findings for a 66-year-old Japanese man with adult/chronic GM1 gangliosidosis whose main clinical symptoms were speech and gait disturbance attributable to dystonia with rigidity. He was a homozygote for the 51isoleucine (ATC)-->threonine (ACC) mutation in the beta-galactosidase gene. Neuronal loss and intracytoplasmic storage were most prominent in the caudate nucleus and putamen and, to a lesser degree, in the amygdala, globus pallidus, and purkinje cells in the cerebellum. Other areas of the CNS were relatively spared. We believe that this selective neuronal involvement in the CNS is characteristic of adult/chronic GM1 gangliosidosis and that it reflects a more active turnover of GM1 ganglioside in the affected areas than elsewhere in the CNS.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |