Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
BACKGROUND
Myelin protein zero gene (MPZ) mutations may account for a small proportion of cases of Charcot-Marie-Tooth disease (CMT). Different MPZ mutations may be associated with different clinical and electrophysiological phenotypes.


OBJECTIVE
To expand our understanding of the characteristics of nerve conduction velocity (NCV) in patients with different MPZ mutations, the authors collected and analysed the NCV values from patients with MPZ mutations.


METHODS
The NCVs of fourteen patients from six families carrying MPZ mutations of Val58Asp, Ser63Phe, Thr65Ile,Arg98Cys, Arg98His, and Ser233fs were collected retrospectively. Five of them had received nerve conduction studies (NCS) twice. The mutations were verified by polymerase chain reaction (PCR) amplifications and nucleotide sequencing. Scatterplot analyses of median motor NCV (MNCV) versus specific MPZ mutation were performed.


RESULTS
The median MNCV varied widely, with a mean of 16.3 m/s (SD = 7.7 m/s) and a range of 5.1-32.9 m/s. Median MNCVs of patients with particular MPZ mutations were similar. Moreover, Median MNCV did not change significantly over time.


CONCLUSIONS
There was concordance between median MNCV and specific MPZ mutations. However, median MNCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mutations from CMT1A patients with PMP22 mutations.
Lee
Yi-Chung
YC
The Neurological Institute, Taipei Veterans General Hospital #201, Sec. 2, Shih-Pai Road, Peitou District, Taipei, Taiwan 11217 (ROC).
Soong
Bing-Wen
BW
Liu
Yo-Tsen
YT
Lin
Kon-Ping
KP
Kao
Ker-Pei
KP
Wu
Zin-An
ZA
D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D016239:MEDLINE / Q000706:statistics & numerical data; D008297:Male; D008475:Median Nerve / Q000503:physiopathology*; D008875:Middle Aged; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012189:Retrospective Studies
D018993:Myelin P0 Protein
Cell Mol Life Sci. 2002 Nov;59(11):1851-71
12530518
Ann Neurol. 1997 Apr;41(4):463-9
9124803
Nat Genet. 1992 Dec;2(4):288-91
1303281
J Neurol Sci. 1999 Dec 15;171(2):97-109
10581375
Brain. 2004 Feb;127(Pt 2):371-84
14711881
Am J Hum Genet. 1996 Mar;58(3):638-41
8644725
Neurology. 1998 May;50(5):1397-401
9595994
J Neurol. 2001 May;248(5):410-5
11437164
Hum Mutat. 2000;15(4):340-7
10737979
Neuron. 1996 Sep;17(3):435-49
8816707
Hum Mutat. 2002 Nov;20(5):392-8
12402337
Neuromuscul Disord. 1999 Oct;9(6-7):361-7
10545037
Clin Genet. 1995 Dec;48(6):281-3
8835320
J Neurol. 1999 Jul;246(7):596-9
10463363
J Neurochem. 1973 Apr;20(4):1207-16
4697881
Nat Genet. 1993 Sep;5(1):31-4
7693129
Hum Mutat. 2001;18(1):32-41
11438991
Neurology. 1989 Oct;39(10):1302-8
2797453
J Neurol Sci. 1997 Jul;149(1):103-9
9168174
J Cell Biol. 1993 Jul;122(2):451-9
7686552
Biochem Biophys Res Commun. 1993 Aug 16;194(3):1317-22
7688964
Hum Mutat. 1996;7(4):377-8
8723697
J Neurosci Res. 1998 Oct 15;54(2):137-46
9788273
J Neurol Sci. 2004 Apr 15;219(1-2):95-100
15050444
Hum Genet. 1997 Jun;99(6):746-54
9187667
Brain. 1997 May;120 ( Pt 5):813-23
9183252
Neuron. 1988 Mar;1(1):73-83
2483091
Neurology. 1996 Sep;47(3):761-5
8797476
Muscle Nerve. 1996 Jan;19(1):74-8
8538673
Neuron. 1996 Sep;17(3):451-60
8816708
Neuromuscul Disord. 1998 Dec;8(8):591-603
10093067
Genomics. 1993 Sep;17(3):755-8
7503936