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Recurrent central nervous system white matter changes in charcot–Marie–Tooth type X disease
Author(s) -
Mckinney Jennifer L.,
De Los Reyes Emily C.,
Lo Warren D.,
Flanigan Kevin M.
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24108
Subject(s) - white matter , hemiparesis , medicine , central nervous system , peripheral nervous system , polyneuropathy , neuroimaging , mutation , pathology , neurological examination , peripheral neuropathy , central nervous system disease , nervous system , neuroscience , magnetic resonance imaging , psychology , genetics , surgery , endocrinology , gene , biology , psychiatry , diabetes mellitus , radiology , lesion
: X‐linked Charcot–Marie–Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene. Methods : Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies. Results : Clinical examination on 2 admissions 5 years apart demonstrated hemiparesis with findings of underlying peripheral neuropathy. Electrophysiologic studies revealed a sensorimotor polyneuropathy. MRI studies from both admissions revealed white matter changes, with improvement on an intervening study. Mutation analysis showed a novel mutation (c.98T>A; p.Ile33Asn) in the GJB1 gene. Conclusions : Mutations in GJB1 can result in recurrent central nervous system symptoms with transient white matter signal changes on MRI. In patients presenting with hemiparesis, the presence of signs of a peripheral neuropathy may facilitate identification of CMT1X, and is likely to affect clinical management. Muscle Nerve 49 :451–454, 2014