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Chronic G M1 gangliosidosis presenting as dystonia: I. Clinical and pathological features
Author(s) -
Goldman James E.,
Katz David,
Rapin Isabelle,
Purpura Dominick P.,
Suzuki Kinuko
Publication year - 1981
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410090509
Subject(s) - gangliosidosis , basal ganglia , dystonia , pathology , myoclonus , pathological , central nervous system , biology , medicine , anatomy , neuroscience , disease
Clinical and pathological studies are reported from investigation of a 27‐year‐old man with G M1 gangliosidosis who experienced a slowly progressive dystonia that began about age 4, primarily affected the face and limbs, and eventually became almost totally incapacitating. There was only mild intellectual deterioration; myoclonus, seizures, and macular cherry‐red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Golgi studies revealed meganeurites arising from medium spiny neurons. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized β‐galactosidase deficiency with specific accumulation of G M1 ganglioside in the basal ganglia.