Title
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Subject
Biology
Human medicine
Source (journal)
Neuromuscular disorders
Volume/pages
23(2013) :4 , p. 345-348
ISSN
0960-8966
ISI
000317701700010
Carrier
E
Target language
Dutch (dut)
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
We describe a patient with a longstanding history of hypertrophic neuropathy of DejerineSottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene. The patient never walked independently and was wheelchair bound by age 18 years. Her parents and son were unaffected. Her peroneal muscular atrophy syndrome presented with scoliosis, bilateral hearing loss, pes planus, distal sensory loss and generalized areflexia. A nerve biopsy at age 26 years showed nerve hypertrophy, myelin uncompaction, defects in mesaxon formation, Schwann cells with irregular outline, axons incompletely surrounded by Schwann cell processes and very short internodes interspersed with denuded axons. Large, mostly denervated, onion bulb formations were also prominent. These findings indicate that demyelination continues undeterred in the advanced stages of the disease and is followed by remyelination attempts that recapitulate the early defects in Schwann cell/axon interaction seen in the Trembler-J mouse, which carries a mutation in the same transmembrane domain.
E-info
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