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Cerebral white matter abnormalities in patients with charcot‐marie‐tooth disease
Author(s) -
Lee Mina,
Park Chang-hyun,
Chung HwaKyung,
Kim Hyeon Jin,
Choi Yunseo,
Yoo Jeong Hyun,
Yoon Young Chul,
Hong Young Bin,
Chung Ki Wha,
Choi ByungOk,
Lee Hyang Woon
Publication year - 2017
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.24824
Subject(s) - white matter , fractional anisotropy , diffusion mri , medicine , tooth disease , magnetic resonance imaging , pathology , neuroimaging , peripheral , central nervous system , hyperintensity , peripheral neuropathy , disease , radiology , endocrinology , psychiatry , diabetes mellitus
Here, we report the structural evidence of cerebral white matter abnormalities in Charcot‐Marie‐Tooth (CMT) patients and the relationship between these abnormalities and clinical disability. Brain diffusion tensor imaging (DTI) was performed in CMT patients with demyelinating (CMT1A/CMT1E), axonal (CMT2A/CMT2E), or intermediate (CMTX1/DI‐CMT) peripheral neuropathy. Although all patients had normal brain magnetic resonance imaging, all genetic subgroups except CMT1A had abnormal DTI findings indicative of significant cerebral white matter abnormalities: decreased fractional anisotropy and axial diffusivity, and increased radial diffusivity. DTI abnormalities were correlated with clinical disability, suggesting that there is comorbidity of central nervous system damage with peripheral neuropathy in CMT patients. ANN NEUROL 2017;81:147–151