Recurrent polyradiculoneuropathy with the 17p11.2 deletion.
Hereditary neuropathy with liability to pressure palsies (HNPP) classically occurs as recurrent focal neuropathy. We report the first known instance of HNPP manifesting, over a 15-year period, as a recurrent sensorimotor polyneuropathy and confirmed by the presence of the PMP-22 gene deletion. We suggest that the molecular study of the 17p11.2 region could be an effective non invasive investigative tool in cases of chronic recurrent polyneuropathy associated with episodes of nerve palsy.
Le Forestier
N
N
Service d'Explorations Fonctionnelles Neurologiques, Hôpital de la Salpêtrière, Paris, France.
LeGuern
E
E
Coullin
P
P
Birouk
N
N
Maisonobe
T
T
Brice
A
A
Léger
J M
JM
Bouche
P
P
D000328:Adult; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010243:Paralysis / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology; D011312:Pressure; D012008:Recurrence