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Variability of Presentation in Hereditary Neuropathy with Liability to Pressure Palsy Results in Underrecognition
Author(s) -
KUMAR NEERAJ,
COLE JULIE,
PARRY GARETH J.
Publication year - 1999
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1999.tb08596.x
Subject(s) - medicine , palsy , pediatrics , disease , presentation (obstetrics) , incidence (geometry) , epidemiology , family history , peripheral myelin protein 22 , surgery , pathology , myelin , physics , alternative medicine , optics , central nervous system
The genetic defect responsible for hereditary neuropathy with liability to pressure palsy (HNPP) is located in the same segment that is duplicated in Charcot‐Marie‐Tooth type 1A (CMT1A). HNPP had been presumed to be rare until an epidemiological study found a much higher incidence than was expected; the researchers suggested that HNPP was underrecognized because many affected persons have mild symptoms. We believe that another reason for underdiagnosis of HNPP is the marked phenotypic variability of the disease. We recommend, therefore, that DNA analysis for the 17p11.2 deletion be considered in patients with unexplained demyelinating neuropathy regardless of family history.