DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP)
- Resource Type
- Authors
- Halonen P; Marja-Liisa Savontaus; Falck B; R Sara; Hannu Kalimo; K Silander
- Source
- Journal of neurology, neurosurgery, and psychiatry. 57(10)
- Subject
- Genetics
Male
medicine.medical_specialty
business.industry
Gene defect
Peripheral Nervous System Diseases
DNA
Dermatology
Pedigree
Psychiatry and Mental health
Medicine
Humans
Surgery
Female
Neurology (clinical)
Chromosome Deletion
business
Finland
Chromosomes, Human, Pair 17
Research Article
- Language
- ISSN
- 0022-3050
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.