Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR

2000 ◽  
Vol 100 (5) ◽  
pp. 459-463 ◽  
Author(s):  
A. Beckmann ◽  
J. M. Schröder
Keyword(s):  
Nerve Biopsy ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Pressure Palsy ◽  
Tooth Type

scholarly journals A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

2009 ◽  
Vol 56 (4) ◽  
Author(s):  
Izabela Moszyńska ◽  
Dagmara Kabzińska ◽  
Elena Sinkiewicz-Darol ◽  
Andrzej Kochański
Keyword(s):  
Point Mutations ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Charcot Marie Tooth ◽  
Tooth Type ◽  
Pressure Palsies ◽  
Atypical Phenotype

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.

scholarly journals Effectiveness of Real-Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies

2005 ◽  
Vol 46 (3) ◽  
pp. 347 ◽  
Author(s):  
Jong Rak Choi ◽  
Woon Hyoung Lee ◽  
Il Nam Sunwoo ◽  
Eun Kyung Lee ◽  
Chang Hoon Lee ◽  
...  
Keyword(s):  
Real Time ◽  
Quantitative Pcr ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Real Time Quantitative Pcr ◽  
Tooth Type ◽  
Pressure Palsies

P970: Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies

2014 ◽  
Vol 125 ◽  
pp. S305-S306 ◽  
Author(s):  
S. Goedee ◽  
G. Brekelmans ◽  
L. van den Berg ◽  
L. Visser
Keyword(s):  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Nerve Enlargement ◽  
Tooth Type ◽  
Pressure Palsies

scholarly journals Analysis of mutations in 17p 11.2 region in patients with Charcot-Marie-Tooth type 1 disease and patients with tomaculose neuropathy

2002 ◽  
Vol 130 (3-4) ◽  
pp. 59-63
Author(s):  
Natasa Zamurovic ◽  
Vedrana Milic ◽  
Jelena Dackovic ◽  
Dragan Zamurovic ◽  
Biljana Culjkovic ◽  
...  
Keyword(s):  
Restriction Analysis ◽  
Hereditary Neuropathy ◽  
Inherited Disorders ◽  
Peripheral Myelin Protein 22 ◽  
Charcot Marie Tooth ◽  
Standard Procedures ◽  
Sporadic Cases ◽  
Tooth Type ◽  
Pressure Palsies

Charcot-Marie-Tooth type 1? disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system associated with duplication and deletion respectively, of the 17p11.2 segment including the gene of peripheral myelin protein 22. We studied 48 subjects belonging to 29 families with clinical and electrophysiological signs of definite CMT1, 20 patients with suspected CMT phenotype, and 17 patients and healthy members of their families with HNPP. Blood sampling and DNA isolation, PCR, restriction analysis, southern blotting were performed using standard procedures. Of 48 patients with diagnosis of definite CMT1 in 25 (52%) we found a 1.5 Mb tandem duplication in chromosome 17p11.2. These duplications were not found in any of 20 sporadic cases with the clinical phenotype of CMT but without reliable electrophysiological data. Only 13 (44.8%)of 29 unrelated CMT1 patients from the first group had 17p11.2 duplications. Three of 4 sporadic cases (75%) with definite CMT1 had 17p11.2 duplications. Of 17 patients from 6 families with HNPP deletion of 17p11.2 segment was found in 15 (88.2%), as well as in 5 (83.3%) of six unrelated cases. Detection of CMT1A/HNPP recombination hotspot is a simple and reliable DNA diagnostic method, which is useful only for the patients with clinically already verified CMT1, and HNPP for further genetic counseling of patients and members of their families.

Distinctive patterns of sonographic nerve enlargement in Charcot–Marie–Tooth type 1A and hereditary neuropathy with pressure palsies

2015 ◽  
Vol 126 (7) ◽  
pp. 1413-1420 ◽  
Author(s):  
Stephan H. Goedee ◽  
Geert J.F. Brekelmans ◽  
Leonard H. van den Berg ◽  
Leo H. Visser
Keyword(s):  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Nerve Enlargement ◽  
Tooth Type ◽  
Pressure Palsies
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