Peripheral neuropathy in Krabbe disease: electrodiagnostic findings.

Journal Article (Clinical Trial;Journal Article)

BACKGROUND: Krabbe disease (KD) is associated with marked central and peripheral demyelination and nerve conduction studies (NCS) typically show a mixed sensorimotor demyelinating peripheral neuropathy (PN). OBJECTIVES: To further characterize the PN in a large cohort of patients with KD and to assess the diagnostic sensitivity of NCS in this condition. METHODS: The authors report the results of electrodiagnostic studies performed in 27 children with KD, ranging in age from 1 day to 8 years, whose diagnosis was confirmed by leukocyte lysosomal enzyme analysis. RESULTS: Based on age-adjusted normative values, 25 of 27 patients had abnormal NCS (sensitivity > 90%) when at least one motor and one sensory nerve were tested in a lower and an upper extremity. Of the 24 patients with the early infantile form of the disease, 23 had abnormal NCS (sensitivity > 95%). Abnormal sural sensory responses (SNR) (82%), F-wave latencies (FWL) (85%), motor conduction velocities (CV) (82%), and distal motor latencies (DL) (76%) were the most sensitive indices. In the lower extremities the sensitivity of motor CV, FWL, and motor DL was 79%, 79%, and 57%, respectively, while in the upper limbs the corresponding sensitivities were 80%, 87%, and 73%. No conduction block was detected and there was uniform slowing of CV. SNR was unobtainable or abnormal in 82% of patients. The compound muscle action potential amplitudes were within normal limits in >70% of lower limb and >45% of upper limb responses. Marked NCS abnormalities were found in a 1-day-old and two 3-week-old neonates, the youngest patients reported to date. NCS were abnormal in 5/9 children with normal EEG or evoked potentials. The severity of the demyelination on NCS correlated well with the clinical severity of the disease. CONCLUSIONS: Peripheral neuropathy occurs very early in Krabbe disease and affects the nerves uniformly. Nerve conduction studies may provide a highly sensitive tool to screen this patient population.

Full Text

Duke Authors

Cited Authors

  • Siddiqi, ZA; Sanders, DB; Massey, JM

Published Date

  • July 25, 2006

Published In

Volume / Issue

  • 67 / 2

Start / End Page

  • 263 - 267

PubMed ID

  • 16864819

Electronic International Standard Serial Number (EISSN)

  • 1526-632X

Digital Object Identifier (DOI)

  • 10.1212/01.wnl.0000230153.34613.84


  • eng

Conference Location

  • United States