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Tooth Disease (tooth + disease)

Distribution by Scientific Domains
Medical Sciences75%

Selected Abstracts

NEFL -related Charcot,Marie,Tooth disease: An unraveling story,

ANNALS OF NEUROLOGY, Issue 6 2009
FRCPI, Mary M. Reilly MD
No abstract is available for this article. [source]

Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy

ANNALS OF NEUROLOGY, Issue 1 2007
Gerd Meyer zu Horste MD
Objective Charcot,Marie,Tooth disease (CMT) is the most common inherited neuropathy, and a duplication of the Pmp22 gene causes the most frequent subform CMT1A. Using a transgenic rat model of CMT1A, we tested the hypothesis that long-term treatment with anti-progesterone (Onapristone) reduces Pmp22 overexpression and improves CMT disease phenotype of older animals, thereby extending a previous proof-of-concept observation in a more clinically relevant setting. Methods We applied placebo-controlled progesterone-antagonist therapy to CMT rats for 5 months and performed grip-strength analysis to assess the motor phenotype. Quantitative Pmp22 RT-PCR and complete histological analysis of peripheral nerves and skin biopsies were performed. Results Anti-progesterone therapy significantly increased muscle strength and muscle mass of CMT rats and reduced the performance difference to wildtype rats by about 50%. Physical improvements can be explained by the prevention of axon loss. Surprisingly, the effects of anti-progesterone were not reflected by improved myelin sheath thickness. Electrophysiology confirmed unaltered NCV, but less reduced CMAP recordings in the treatment group. Moreover, the reduction of Pmp22 mRNA, as quantified in cutaneous nerves, correlated with the clinical phenotype at later stages. Interpretation Progesterone-antagonist treatment. Pmp22 overexpression to a degree at which the axonal support function of Schwann cells is better maintained than myelination. This suggests that axonal loss in CMT1A is not caused by demyelination, but rather by a Schwann cell defect that has been partially uncoupled by anti-progesterone treatment. Pmp22 expression analysis in skin may provide a prognostic marker for disease severity and for monitoring future clinical trials. Ann Neurol 2007;61:61,72 [source]

Axonal and demyelinating forms of the MPZ Thr124Met mutation

ACTA NEUROLOGICA SCANDINAVICA, Issue 3 2003
S. Kurihara
Objective , We report on a Japanese family with Charcot,Marie,Tooth disease (CMT) with the Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene. Material and methods , Based on the clinical study, we investigated MPZ gene by direct sequence analysis and polymerase chain reaction,restriction fragment length polymorphism analysis. Results , Genotyping of four symptomatic family members showed that one family member with severe disease symptoms was homozygous, while the other three were heterozygous. The heterozygous cases were clinicopathologically determined to be the axonal type, which is characterized by late-onset and slow progression associated with Adie's pupil and deafness. The homozygous case was the demyelinating type, which showed earlier onset, rapid progression, sural nerve demyelination, and cranial nerve demyelination at autopsy. Conclusions , We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations. [source]

Discoveries in Charcot,Marie,Tooth disease, Crohn's disease and Bardet,Biedl syndrome 4

CLINICAL GENETICS, Issue 3 2001
Simon Warby
No abstract is available for this article. [source]