Gene dosage effects in hereditary peripheral neuropathy

@article{Gabriel1997GeneDE,
  title={Gene dosage effects in hereditary peripheral neuropathy},
  author={Jean Marc Gabriel and Beat Erne and Davide Pareyson and Angelo Sghirlanzoni and Franco Taroni and Andreas Johann Steck},
  journal={Neurology},
  year={1997},
  volume={49},
  pages={1635 - 1640}
}
A duplication of a 1.5-Megabase genomic region encompassing the gene for the peripheral myelin protein 22 (PMP22) is found on chromosome 17p11.2-12 in Charcot-Marie-Tooth disease type 1A (CMT1A), whereas the reciprocal deletion is associated with hereditary neuropathy with liability to pressure palsies(HNPP). Since most CMT1A patients harbor three copies of the PMP22 gene, and most HNPP patients carry only a single copy, a gene dosage effect has been proposed as a mechanism for both diseases… 

Figures from this paper

PMP 22 expression in dermal nerve myelin from patients with CMT 1 A
TLDR
There was no correlation between neurological disabilities and the level of over-expression of PMP22 protein or mRNA in patients with CMT1A, and variability ofPMP22 levels, rather than absolute level, may play an important role in the pathogenesis of C MT1A.
PMP22 expression in dermal nerve myelin from patients with CMT1A.
TLDR
There was no correlation between neurological disabilities and the level of over-expression of PMP22 protein or mRNA in patients with CMT1A, and variability ofPMP22 levels, rather than absolute level, may play an important role in the pathogenesis of C MT1A.
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Molecular basis of inherited neuropathies.
TLDR
Overexpression or underexpression of peripheral myelin protein of 22 kDa are causative for the most frequent forms of CMT-CMT1A and hereditary neuropathy with liability to pressure palsies--but the mechanisms that lead to incorrect myelin formation and maintenance are still unknown.
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  • Biology, Medicine
    Pediatric Research
  • 1999
TLDR
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Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory‐Motor Neuropathies: 12 cases
TLDR
A quantitative study by ultrastructural immunocytochemistry of several myelin proteins on sural nerve biopsy samples from 12 unrelated CMT patients provided evidence for interference between different myelin Protein types, in line with the results from animal studies.
Clinical features and molecular genetics of hereditary peripheral neuropathies
TLDR
This review summarises the clinical and molecular genetic features of primary inherited neuropathies and is aimed primarily at clinicians and geneticists.
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