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Adult Onset Familial Cherry-Red Spot Myoclonus

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 l...

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Detalles Bibliográficos
Autores principales: Kim, Chi Kyung, Jeon, Beom S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027691/
https://www.ncbi.nlm.nih.gov/pubmed/24868356
http://dx.doi.org/10.14802/jmd.09014
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author Kim, Chi Kyung
Jeon, Beom S.
author_facet Kim, Chi Kyung
Jeon, Beom S.
author_sort Kim, Chi Kyung
collection PubMed
description 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.
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spelling pubmed-40276912014-05-27 Adult Onset Familial Cherry-Red Spot Myoclonus Kim, Chi Kyung Jeon, Beom S. J Mov Disord Case Report 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. The Korean Movement Disorder Society 2009-05 2009-04-30 /pmc/articles/PMC4027691/ /pubmed/24868356 http://dx.doi.org/10.14802/jmd.09014 Text en Copyright © 2009 The Korean Movement Disorder Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Chi Kyung
Jeon, Beom S.
Adult Onset Familial Cherry-Red Spot Myoclonus
title Adult Onset Familial Cherry-Red Spot Myoclonus
title_full Adult Onset Familial Cherry-Red Spot Myoclonus
title_fullStr Adult Onset Familial Cherry-Red Spot Myoclonus
title_full_unstemmed Adult Onset Familial Cherry-Red Spot Myoclonus
title_short Adult Onset Familial Cherry-Red Spot Myoclonus
title_sort adult onset familial cherry-red spot myoclonus
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027691/
https://www.ncbi.nlm.nih.gov/pubmed/24868356
http://dx.doi.org/10.14802/jmd.09014
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