HNPP due to a novel missense mutation of the PMP22 gene

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Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy . 1-3⇓⇓ It is usually caused by a 1.5-Mb deletion of the PMP22 gene (17p11.2), but several point mutations have been reported. We describe a novel missense mutation of the PMP22 gene in a family with HNPP. A 17-year-old girl noted a 2-week history of persistent numbness and tingling of her left 4th and 5th digits and left hand weakness that developed acutely after 1 hour of leaning on her left palm. At age 9 years, she had a 2-month episode of right foot drop and numbness of the right lateral lower leg after sleeping with her legs crossed. On examination, she appeared to have ulnar neuropathy at the wrist (UNW) with mild weakness in the left first dorsal interosseous muscle (FDI) and the abductor digiti minimi, with normal strength in the left …

Journal

  • Neurology

    Neurology 60 1863-1864, 2003-06-10

    Ovid Technologies (Wolters Kluwer Health)

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