Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene

被引：16

作者：

De Angelis, MV

Di Muzio, A

Capasso, M

Angiari, C

Cavallaro, T

Fabrizi, GM

Rizzuto, N

Uncini, A

机构：

[1] Univ G DAnnunzio, Fdn Chieti Pescara, CeSI, Aging Res Ctr,Neurodegenerat Dis Unit, Chieti, Italy

[2] Univ Verona, Dept Neurol & Visual Sci, Sect Clin Neurol, I-37100 Verona, Italy

来源：

NEUROLOGY | 2004年 / 63卷 / 11期

关键词：

D O I：

10.1212/01.WNL.0000145707.17402.1D

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive trauma, may induce segmental conduction abnormalities.

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页码：2180 / 2183

页数：4

相关论文

共 10 条

[1]

Campbell WW, 1999, MUSCLE NERVE S8, V22, pS175

[2]

DYCK PJ, 1993, PERIPHERAL NEUROPATH, P514

[3] Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero [J].

Fabrizi, GM ;

Taioli, F ;

Cavallaro, T ;

Rigatelli, F ;

Simonati, A ;

Mariani, G ;

Perrone, P ;

Rizzuto, N .

ACTA NEUROPATHOLOGICA, 2000, 100 (03) :299-304

[4] A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B [J].

Fabrizi, GM ;

Ferrarini, M ;

Cavallaro, T ;

Jarre, L ;

Polo, A ;

Rizzuto, N .

NEUROLOGY, 2001, 57 (01) :101-105

[5] 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

[6] PROTEIN ZERO (P0)-DEFICIENT MICE SHOW MYELIN DEGENERATION IN PERIPHERAL-NERVES CHARACTERISTIC OF INHERITED HUMAN NEUROPATHIES [J].

MARTINI, R ;

ZIELASEK, J ;

TOYKA, KV ;

GIESE, KP ;

SCHACHNER, M .

NATURE GENETICS, 1995, 11 (03) :281-286

[7] AUTOSOMAL RECESSIVE MOTOR AND SENSORY NEUROPATHY WITH EXCESSIVE MYELIN OUTFOLDING [J].

OHNISHI, A ;

MURAI, Y ;

IKEDA, M ;

FUJITA, T ;

FURUYA, H ;

KUROIWA, Y .

MUSCLE & NERVE, 1989, 12 (07) :568-575

[8] Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease [J].

Pareyson, D ;

Menichella, D ;

Botti, S ;

Sghirlanzoni, A ;

Fallica, E ;

Mora, M ;

Ciano, C ;

Shy, ME ;

Taroni, F .

CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 :477-480

[9] DIFFERENTIAL ELECTROPHYSIOLOGICAL FEATURES OF NEUROPATHIES ASSOCIATED WITH 17P11.2 DELETION AND DUPLICATION [J].

UNCINI, A ;

DIGUGLIELMO, G ;

DIMUZIO, A ;

GAMBI, D ;

SABATELLI, M ;

MIGNOGNA, T ;

TONALI, P ;

MARZELLA, R ;

FINELLI, P ;

ARCHIDIACONO, N ;

ROCCHI, M .

MUSCLE & NERVE, 1995, 18 (06) :628-635

[10] Clinical phenotypes of different MPZ (P-0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination [J].

Warner, LE ;

Hilz, MJ ;

Appel, SH ;

Killian, JM ;

Kolodny, EH ;

Karpati, G ;

Carpenter, S ;

Watters, GV ;

Wheeler, C ;

Witt, D ;

Bodell, A ;

Nelis, E ;

Van Broeckhoven, C ;

Lupski, JR .

NEURON, 1996, 17 (03) :451-460