PMID- 10071100
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20190501
IS  - 0022-3050 (Print)
IS  - 0022-3050 (Linking)
VI  - 66
IP  - 2
DP  - 1999 Feb
TI  - Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth 
      family with an Asn205Ser mutation in the connexin 32 gene.
PG  - 202-6
AB  - BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited
      motor and sensory neuropathy that mainly affects the peripheral nervous system.
      CMT1X is associated with mutations in the gap junction protein connexin 32
      (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral
      (PNS) and in the (CNS) respectively. METHODS: A CMT1X family with a Cx32 mutation
      was examined clinically and electrophysiologically to determine whether PNS, or
      CNS, or both pathways were affected. RESULTS: In a CMT1X family a novel mutation 
      (Asn205Ser) was found in the fourth transmembrane domain of Cx32. The patients
      showed typical clinical and electrophysiological abnormalities in the PNS, but in
      addition visual, acoustic, and motor pathways of the CNS were affected
      subclinically. This was indicated by pathological changes in visually evoked
      potentials (VEPs), brainstem auditory evoked potentials (BAEPs), and central
      motor evoked potentials (CMEPs). CONCLUSIONS: These findings underscore the
      necessity of a careful analysis of CNS pathways in patients with CMT and Cx32
      mutations. Abnormal electrophysiological findings in CNS pathway examinations
      should raise the suspicion of CMTX and a search for gene mutations towards Cx32
      should be considered.
FAU - Bahr, M
AU  - Bahr M
AD  - Neurologische Universitatsklinik, Tubingen, Germany.
      mathias.baehr@uin-tuebingen.de
FAU - Andres, F
AU  - Andres F
FAU - Timmerman, V
AU  - Timmerman V
FAU - Nelis, M E
AU  - Nelis ME
FAU - Van Broeckhoven, C
AU  - Van Broeckhoven C
FAU - Dichgans, J
AU  - Dichgans J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Neurol Neurosurg Psychiatry
JT  - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
RN  - 0 (Connexins)
RN  - 0 (connexin 32)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Central Nervous System/physiopathology
MH  - Charcot-Marie-Tooth Disease/*genetics/*physiopathology
MH  - Connexins/*genetics
MH  - Electromyography
MH  - Evoked Potentials, Auditory, Brain Stem/physiology
MH  - Evoked Potentials, Visual/physiology
MH  - Female
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Neural Conduction/physiology
MH  - Pedigree
MH  - Peripheral Nervous System/physiopathology
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Reaction Time/physiology
PMC - PMC1736220
EDAT- 1999/03/10 00:00
MHDA- 1999/03/10 00:01
CRDT- 1999/03/10 00:00
PHST- 1999/03/10 00:00 [pubmed]
PHST- 1999/03/10 00:01 [medline]
PHST- 1999/03/10 00:00 [entrez]
AID - 10.1136/jnnp.66.2.202 [doi]
PST - ppublish
SO  - J Neurol Neurosurg Psychiatry. 1999 Feb;66(2):202-6. doi: 10.1136/jnnp.66.2.202.