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Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion
Author(s) -
Weiss B. J.,
Kamholz J.,
Ritter A.,
Zackai E. H.,
McDonaldMcGinn D. M.,
Emanuel B.,
Fischbeck K. H.
Publication year - 1991
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.410300316
Subject(s) - spinal muscular atrophy , vitiligo , atrophy , pathology , medicine , chromosome , myelin , magnetic resonance imaging , anatomy , biology , gene , genetics , dermatology , central nervous system , disease , radiology
We have evaluated a young woman with segmental spinal muscular atrophy, who has a deletion of a portion of the long arm of chromosome 18. She also has vitiligo and lichen sclerosis et atrophicus. She has neither the facial dysmorphism nor the mental deficit usually associated with the 18q − syndrome. Magnetic resonance imaging scan of her brain demonstrates high signal intensity consistent with abnormal myelination. Southern blot analysis of her DNA demonstrates that the deletion includes the gene for human myelin basic protein. Neither spinal muscular atrophy nor this patient's skin manifestations have been previously reported in association with 18q − .