[Hereditary neuropathy with pressure palsies].
BACKGROUND
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant polyneuropathy usually caused by a deletion in the gene coding for the peripheral nerve myelin protein 22 (PMP22). The patients usually get relapsing and remitting focal nerve symptoms due to mechanical factors like pressure or minor trauma that normal nerves tolerate.


METHODS
Two patients from different families have been examined clinically, neurophysiologically and genetically by Southern blot and PCR techniques.


RESULTS
The clinical and neurophysiological findings were typical of this disorder, and the DNA tests showed deletions in the PMP22 gene.


CONCLUSIONS
We discuss clinical, neurophysiological and molecular diagnostics, pathomechanisms, treatment and secondary prevention. Early diagnosis may be important for optimal management of the patients.
Nevrologisk avdeling Haukeland Sykehus 5021 Bergen. iogj@haukeland.no
I O
IO
Gjerde
N
N
Aarskog
C
C
Vedeler
D000328:Adult; D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics; D010243:Paralysis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011312:Pressure; D014459:Ulnar Nerve / Q000503:physiopathology
D018993:Myelin P0 Protein