Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis

2007 ◽  
Vol 17 (11-12) ◽  
pp. 964-967 ◽  
Author(s):  
Paul W.J. Van Vught ◽  
Joost Van Wijk ◽  
Ted E.J. Bradley ◽  
Dagmar Plasmans ◽  
Marja E. Jakobs ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Risk Factor ◽  
Ciliary Neurotrophic Factor ◽  
Null Alleles ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsies ◽  
Lateral Sclerosis ◽  
Tooth Disease

scholarly journals Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12

1996 ◽  
Vol 42 (7) ◽  
pp. 1021-1025 ◽  
Author(s):  
A Vandenberghe ◽  
P Latour ◽  
G Chauplannaz ◽  
F Chapon ◽  
J Pouget ◽  
...  
Keyword(s):  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Ecori Site ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Repeat Sequences ◽  
Pressure Palsies ◽  
Almost All ◽  
Recombination Breakpoints ◽  
Tooth Disease

Abstract The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region. The reciprocal product of this recombination is a deletion of the same region, which is associated with hereditary neuropathy with liability to pressure palsies (HNPP; OMIM162.500). Proximal and distal CMT1A-REP sequences can be distinguished by the presence of a variant EcoRI site. We quantified the number of these repeat sequences in 36 CMT1A and 40 HNPP patients. CMT1A-REP sequences are involved in almost all of the mutations. The majority of recombination breakpoints occur distally from the variant EcoRI site. However, a few have a breakpoint proximal to this site, which creates the risk of misinterpretation with respect to a duplicated/deleted status.

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

Neurology ◽  
1998 ◽  
Vol 50 (3) ◽  
pp. 760-763 ◽  
Author(s):  
P. Young ◽  
F. Stogbauer ◽  
H. Wiebusch ◽  
A. Lofgren ◽  
V. Timmerman ◽  
...  
Keyword(s):  
Disease Type ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsies ◽  
Tooth Disease
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