A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
复制标题
一种新型遗传性运动和感觉神经病，其特征为轻度表型。
DOI：
10.1001/archneur.56.10.1283
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发表时间：
1999
影响因子：
--
通讯作者：
C. van Broeckhoven
中科院分区：
文献类型：
--
作者：
P. de Jonghe;V. Timmerman;E. Nelis;E. De Vriendt;A. Löfgren;C. Ceuterick;J. Martin;C. van Broeckhoven
背景
BACKGROUND
Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) have been identified on chromosomes 17p11.2 (CMT1A), 1q21-q23 (CMT1B), and 10q21.1-q22.1 (designated here as CMT1D). The genes involved are peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), and the early growth response element 2 (EGR2), respectively. Probably a fourth locus (CMT1C) exists since some autosomal dominant HMSN I families have been excluded for linkage with the CMT1A and CMT1B loci. Four loci for autosomal dominant hereditary motor and sensory neuropathy type II (HMSN II) or Charcot-Marie-Tooth disease type 2 (CMT2) have been localized on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), 7p14 (CMT2D), and 3p (HMSN-P).
OBJECTIVE
To describe the clinical, electrophysiologic, and neuropathological features of a novel type of Charcot-Marie-Tooth disease.
PATIENTS AND METHODS
We performed linkage studies with anonymous DNA markers flanking the known CMT1 and CMT2 loci. Patients and their relatives underwent clinical neurologic examination and electrophysiologic testing. In the proband, a sural nerve biopsy specimen was examined.
RESULTS
Linkage studies excluded all known CMT1 and CMT2 loci. The clinical phenotype is mild and almost all affected individuals remain asymptomatic. Electrophysiologic and histopathological studies showed signs of a demyelinating neuropathy, but the phenotype is unusual for either autosomal dominant HMSN I or HMSN II.
CONCLUSION
Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity.
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常染色体显性 2 型夏科-马里-图思病基因 (CMT2A) 定位于染色体 1p 以及遗传异质性的证据。
影响因子：
4.4
作者：
BenOthmane,K;Middleton,LT;Loprest,LJ;Wilkinson,KM;Lennon,F;Rozear,MP;Stajich,JM;Gaskell,PC;Roses,AD;Pericak-Vance,MA
通讯作者：
Pericak-Vance,MA
影响因子：
4.4
作者：
T. Hudson;M. Engelstein;Matthias K. Lee;Elizabeth C. Ho;M. Rubenfield;Christopher P. Adams;D. Housman;N. Dracopoli
通讯作者：
T. Hudson;M. Engelstein;Matthias K. Lee;Elizabeth C. Ho;M. Rubenfield;Christopher P. Adams;D. Housman;N. Dracopoli
将第二个 Charcot-Marie-Tooth II 型基因座分配给染色体 3q。
影响因子：
9.8
作者：
Kwon,JM;Elliott,JL;Yee,WC;Ivanovich,J;Scavarda,NJ;Moolsintong,PJ;Goodfellow,PJ
通讯作者：
Goodfellow,PJ
影响因子：
9.8
作者：
T. Bird;J. Ott;E. Giblett
通讯作者：
T. Bird;J. Ott;E. Giblett
I 型夏科-马里-图思病（I 型遗传性运动和感觉神经病）的遗传连锁和异质性。
影响因子：
9.8
作者：
Chance,PF;Bird,TD;O'Connell,P;Lipe,H;Lalouel,JM;Leppert,M
通讯作者：
Leppert,M