Article
[Two siblings of type 3 GM1 gangliosidosis with different clinical features and different ages of onset].
Rinsho shinkeigaku = Clinical neurology - 1 Jun 1993
Yamashita M, Yamasaki M, Kusaka H, Imai T, Inui K
Abstract excerpt
We experienced two siblings of type 3 GM1 gangliosidosis. A 33-year-old woman developed dysarthria, dysbasia and bradykinesia at around the age of 30. Her 28-year-old brother showed locomotor retardation and skeletal deformity in infancy. He lost the ability to stand walk at childhood, and developed progressive dystonia. The major neurologic manifestations were parkinsonian symptoms in the elder sister, and...
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