Axon damage in CMT due to mutation in myelin protein P0

被引：28

作者：

Hanemann, CO

Gabreëls-Festen, AAWM

De Jonghe, P

机构：

[1] Univ Ulm, Dept Neurol, Zentrum Klin Forsch, D-7900 Ulm, Germany

[2] Univ Nijmegen, Med Ctr, Neurol Inst, Nijmegen, Netherlands

[3] Univ Antwerp UIA, Neurogenet Lab, Dept Biochem, Antwerp, Belgium

来源：

NEUROMUSCULAR DISORDERS | 2001年 / 11卷 / 08期

关键词：

Charcot-Marie-Tooth diseased; myelin protein P0 mutation; secondary axon damage;

D O I：

10.1016/S0960-8966(01)00229-2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture (C) 2001 Elsevier Science B.V. All fights reserved.

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页码：753 / 756

页数：4

相关论文

共 13 条

[1] Formation of compact myelin is required for maturation of the axonal cytoskeleton [J].

Brady, ST ;

Witt, AS ;

Kirkpatrick, LL ;

de Waegh, SM ;

Readhead, C ;

Tu, PH ;

Lee, VMY .

JOURNAL OF NEUROSCIENCE, 1999, 19 (17) :7278-7288

[2] Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene [J].

Chapon, F ;

Latour, P ;

Diraison, P ;

Schaeffer, S ;

Vandenberghe, A .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 66 (06) :779-782

[3] The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype [J].

De Jonghe, P ;

Timmerman, V ;

Ceuterick, C ;

Nelis, E ;

De Vriendt, E ;

Löfgren, A ;

Vercruyssen, A ;

Verellen, C ;

Van Maldergem, L ;

Martin, JJ ;

Van Broeckhoven, C .

BRAIN, 1999, 122 :281-290

[4] Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice [J].

Frei, R ;

Mötzing, S ;

Kinkelin, I ;

Schachner, M ;

Koltzenburg, M ;

Martini, R .

JOURNAL OF NEUROSCIENCE, 1999, 19 (14) :6058-6067

[5] Two divergent types of nerve pathology in patients with different P-0 mutations in Charcot-Marie-Tooth disease [J].

GabreelsFesten, AAWM ;

Hoogendijk, JE ;

Meijerink, PHS ;

Gabreels, FJM ;

Bolhuis, PA ;

vanBeersum, S ;

Kulkens, T ;

Nelis, E ;

Jennekens, FGI ;

deVisser, M ;

vanEngelen, BGM ;

Van Broeckhoven, C ;

Mariman, ECM .

NEUROLOGY, 1996, 47 (03) :761-765

[6]

LEWIS RA, 2000, ANN NY ACAD SCI, V883, P1999

[7] Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene [J].

Marrosu, MG ;

Vaccargiu, S ;

Marrosu, G ;

Vannelli, A ;

Cianchetti, C ;

Muntoni, F .

NEUROLOGY, 1998, 50 (05) :1397-1401

[8] Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field [J].

Nelis, E ;

Timmerman, V ;

De Jonghe, P ;

Van Broeckhoven, C ;

Rautenstrauss, B .

NEUROGENETICS, 1999, 2 (03) :137-148

[9]

Pareyson D, 1999, NEUROLOGY, V52, P1110

[10] Distal axonopathy in peripheral nerves of PMP22-mutant mice [J].

Sancho, S ;

Magyar, JP ;

Aguzzi, A ;

Suter, U .

BRAIN, 1999, 122 :1563-1577