title: Adult onset familial cherry-red spot myoclonus.
abstract: We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive inheritance pattern suggested that she had an unknown type of lysosomal storage disease.
authors.affiliation: Movement Disorder Center, Seoul National University Hospital, Seoul, Korea.
authors.forename: Chi Kyung
authors.initials: CK
authors.lastname: Kim
authors.affiliation: Department of Neurology, Seoul National University Hospital, Seoul, Korea.
authors.forename: Beom S
authors.initials: BS
authors.lastname: Jeon
keywords: Cherry-red spot; Lysosomal storage disease; Myoclonus