DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).
نویسندگان
چکیده
Hereditary neuropathy with liability to pressure palsies (HNPP) is a dominantly inherited disorder that presents as recurrent mononeuropathies precipitated by apparently trivial traumas. The presence of a deletion in 17p11.2 was analysed in 13 Finnish families with HNPP. The deletion was found in all patients who were neurologically and neurophysiologically confirmed to have HNPP. In the problematic cases the detection of the gene defect is the method of choice in the diagnosis of HNPP. Analysis of DNA can also be used to detect clinically unaffected family members.
منابع مشابه
Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.
We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed active axonal regeneration without typical tomacula. Molecular analysis confir...
متن کاملAllele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies.
BACKGROUND We designed allele-specific primers to amplify genomic DNA of patients with Charcot-Marie-Tooth 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). METHODS Genomic DNA analysis was performed on 40 unrelated CMT1A duplication patients, 25 unrelated HNPP deletion patients, and 50 unaffected control individuals. The CMT1A and HNPP patients had previously be...
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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 m...
متن کاملHereditary neuropathy with liability to pressure palsy.
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.
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عنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 57 10 شماره
صفحات -
تاریخ انتشار 1994