Abstract
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine- Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two apparently unrelated families) with a late onset, but rapidly progressive, axonal peripheral neuropathy. In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ mutations should be considered in both sporadic and familial cases of late onset, progressive polyneuropathy. The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated.
| Original language | English |
|---|---|
| Pages (from-to) | 1263-1266 |
| Number of pages | 4 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 78 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2007 |
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ASJC Scopus subject areas
- Medicine(all)
- Psychiatry and Mental health
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
Cite this
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. / Laurà, Matilde; Milani, Micaela; Morbin, Michela; Moggio, Maurizio; Ripolone, Michela; Jann, Stefano; Scaioli, Vidmer; Taroni, Franco; Pareyson, Davide.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 78, No. 11, 11.2007, p. 1263-1266.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain
AU - Laurà, Matilde
AU - Milani, Micaela
AU - Morbin, Michela
AU - Moggio, Maurizio
AU - Ripolone, Michela
AU - Jann, Stefano
AU - Scaioli, Vidmer
AU - Taroni, Franco
AU - Pareyson, Davide
PY - 2007/11
Y1 - 2007/11
N2 - Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine- Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two apparently unrelated families) with a late onset, but rapidly progressive, axonal peripheral neuropathy. In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ mutations should be considered in both sporadic and familial cases of late onset, progressive polyneuropathy. The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated.
AB - Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine- Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two apparently unrelated families) with a late onset, but rapidly progressive, axonal peripheral neuropathy. In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ mutations should be considered in both sporadic and familial cases of late onset, progressive polyneuropathy. The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated.
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UR - http://www.scopus.com/inward/citedby.url?scp=35748929666&partnerID=8YFLogxK
U2 - 10.1136/jnnp.2006.112276
DO - 10.1136/jnnp.2006.112276
M3 - Article
C2 - 17940173
AN - SCOPUS:35748929666
VL - 78
SP - 1263
EP - 1266
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 11
ER -