Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent transient pressure palsies of peripheral nerves and slowing of nerve conduction velocity of the peripheral nerves at common sites of compression. In most cases the molecular basis of the disease is a 1.5 Mb deletion on chromosome 17p11.2. We report four members of a family with different clinical phenotypes. Electrophysiological and genetic studies were consistent with the diagnosis of HNPP. Nerve biopsy is only necessary in patients with a normal result of the molecular genetic analysis. The variability of the clinical phenotype along with asymptomatic individuals could account for an under-recognition of this inherited neuropathy.
Ugeskrift for Laeger, 1999, Vol 161, Issue 23, p. 3463-5
Adult; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Diagnosis, Differential; Female; Hereditary Sensory and Motor Neuropathy; Humans; Male; Middle Aged; Paresis; Pedigree; Pressure