Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.

摘要: BACKGROUND--The most common form of CMT with slow nerve conduction velocities (CMT type I) is CMT1A, caused by a submicroscopic duplication region DNA on chromosome 17 including the PMP22 gene. This gene expressed in peripheral but not CNS. The second CMTX, mutations connexin32 X chromosome. Connexin32 both brain and nerve. These molecular variants are difficult to distinguish clinically. METHODS--Brain stem auditory evoked responses (BAERs) were measured patients CTMX CMT1A. RESULTS--BAERs showed central slowing male CMTX which did overlap normal range. Patients CMT1A had delay wave I latency otherwise responses. results consistent pattern expression portion eighth (myelinated Schwann cells) brainstem pathways oligodendrocytes). first evidence for involvement CMTX. CONCLUSION--BAERs useful from may assist selection appropriate mutation analysis.