title: Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
abstract: 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.
authors.affiliation: The Neurological Institute, Taipei Veterans General Hospital #201, Sec. 2, Shih-Pai Road, Peitou District, Taipei, Taiwan 11217 (ROC).
authors.forename: Yi-Chung
authors.initials: YC
authors.lastname: Lee
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Soong
authors.forename: Yo-Tsen
authors.initials: YT
authors.lastname: Liu
authors.forename: Kon-Ping
authors.initials: KP
authors.lastname: Lin
authors.forename: Ker-Pei
authors.initials: KP
authors.lastname: Kao
authors.forename: Zin-An
authors.initials: ZA
authors.lastname: Wu
mesh_terms: 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
chemical_list: D018993:Myelin P0 Protein
references.citation: Cell Mol Life Sci. 2002 Nov;59(11):1851-71
references.pmid: 12530518
references.citation: Ann Neurol. 1997 Apr;41(4):463-9
references.pmid: 9124803
references.citation: Nat Genet. 1992 Dec;2(4):288-91
references.pmid: 1303281
references.citation: J Neurol Sci. 1999 Dec 15;171(2):97-109
references.pmid: 10581375
references.citation: Brain. 2004 Feb;127(Pt 2):371-84
references.pmid: 14711881
references.citation: Am J Hum Genet. 1996 Mar;58(3):638-41
references.pmid: 8644725
references.citation: Neurology. 1998 May;50(5):1397-401
references.pmid: 9595994
references.citation: J Neurol. 2001 May;248(5):410-5
references.pmid: 11437164
references.citation: Hum Mutat. 2000;15(4):340-7
references.pmid: 10737979
references.citation: Neuron. 1996 Sep;17(3):435-49
references.pmid: 8816707
references.citation: Hum Mutat. 2002 Nov;20(5):392-8
references.pmid: 12402337
references.citation: Neuromuscul Disord. 1999 Oct;9(6-7):361-7
references.pmid: 10545037
references.citation: Clin Genet. 1995 Dec;48(6):281-3
references.pmid: 8835320
references.citation: J Neurol. 1999 Jul;246(7):596-9
references.pmid: 10463363
references.citation: J Neurochem. 1973 Apr;20(4):1207-16
references.pmid: 4697881
references.citation: Nat Genet. 1993 Sep;5(1):31-4
references.pmid: 7693129
references.citation: Hum Mutat. 2001;18(1):32-41
references.pmid: 11438991
references.citation: Neurology. 1989 Oct;39(10):1302-8
references.pmid: 2797453
references.citation: J Neurol Sci. 1997 Jul;149(1):103-9
references.pmid: 9168174
references.citation: J Cell Biol. 1993 Jul;122(2):451-9
references.pmid: 7686552
references.citation: Biochem Biophys Res Commun. 1993 Aug 16;194(3):1317-22
references.pmid: 7688964
references.citation: Hum Mutat. 1996;7(4):377-8
references.pmid: 8723697
references.citation: J Neurosci Res. 1998 Oct 15;54(2):137-46
references.pmid: 9788273
references.citation: J Neurol Sci. 2004 Apr 15;219(1-2):95-100
references.pmid: 15050444
references.citation: Hum Genet. 1997 Jun;99(6):746-54
references.pmid: 9187667
references.citation: Brain. 1997 May;120 ( Pt 5):813-23
references.pmid: 9183252
references.citation: Neuron. 1988 Mar;1(1):73-83
references.pmid: 2483091
references.citation: Neurology. 1996 Sep;47(3):761-5
references.pmid: 8797476
references.citation: Muscle Nerve. 1996 Jan;19(1):74-8
references.pmid: 8538673
references.citation: Neuron. 1996 Sep;17(3):451-60
references.pmid: 8816708
references.citation: Neuromuscul Disord. 1998 Dec;8(8):591-603
references.pmid: 10093067
references.citation: Genomics. 1993 Sep;17(3):755-8
references.pmid: 7503936