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42 per cent of adults and children with hereditary neuropathy received a diagnosis.
High arches, hammer toes, and inverted champagne bottle legs suggest a hereditary neuropathy.
We included 17 axonal neuropathy (AN) patients, 11 vasculitic neuropathy (VN) patients and 12 hereditary neuropathy with liability to pressure palsy (HNPP) who had undergone sural and superficial peroneal nerve biopsy as part of the diagnostic work-up of their neuropathy and whose nerve biopsy specimens were suitable for the immunohistochemical analysis.
4-Mb duplication on chromosome 17 containing the PMP22 gene; deletion of the same region results in Hereditary neuropathy with liability to pressure palsies(HNPP) (Figure-3).
Hereditary neuropathy with liability to pressure palsies and anaesthesia: peri-operative nerve injury.
The research aimed to define the diagnostic importance of a computer pallesthesiometry method for using in diagnostics of hereditary neuropathy with primary damage of myelin layer peripheral nerves in lower extremities.
A specific example would be testing first for PMP22 duplications and deletions in a patient with neuropathy and an appropriate clinical presentation, before proceeding with testing for less prevalent mutations that can also cause hereditary neuropathy.
If this polymorphism is causative of HMSN type II, it would be a very valuable contribution in the understanding of CMT, the physiopathology of hereditary neuropathy and the function of the peripheral nerves.
sup][3] The heterozygous deletion of PMP22 is the major cause for the disease, hereditary neuropathy with liability to pressure palsies (HNPP), whereas point mutations in PMP22 are connected with patients who display clinical features ranging from mild HNPP to severe CMT1.
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H; Study Group for Hereditary Neuropathy in Japan.
diabetes, alcoholism, risk group for HIV infection; patients with a family history of hereditary neuropathy, and patients over 60 years of age.
We also analyzed 50 patients with hereditary neuropathy with liability to pressure palsies (HNPP), who were hemizygous for the PMP22 region (34), as confirmed by the observation of a deletion-specific junction fragment obtained with probe pNEA102.
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