scholarly journals Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

1996 ◽  
Vol 4 (1) ◽  
pp. 25-33 ◽  
Author(s):  
Eva Nelis ◽  
Christine Van Broeckhoven
Keyword(s):  
Collaborative Study ◽  
Disease Type ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsies ◽  
European Collaborative Study ◽  
Tooth Disease

scholarly journals A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions

2021 ◽  
Vol 23 (2) ◽  
pp. 130-133
Author(s):  
Minsung Kang ◽  
Sun-Jae Hwang ◽  
Jin-Hong Shin ◽  
Dae-Seong Kim
Keyword(s):  
Nervous System ◽  
Clinical Manifestations ◽  
White Matter Lesions ◽  
Disease Type ◽  
Cerebral White Matter ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.

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
Sign in / Sign up

Export Citation Format

Share Document