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Peripheral neuropathy in late-onset Krabbe disease: report of three cases

Abstract

Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.

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Correspondence to A. Malandrini.

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Malandrini, A., D’Eramo, C., Palmeri, S. et al. Peripheral neuropathy in late-onset Krabbe disease: report of three cases. Neurol Sci 34, 79–83 (2013). https://doi.org/10.1007/s10072-012-0956-6

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Keywords

  • Krabbe’s disease
  • Nerve biopsy
  • Intracytoplasmic inclusions
  • GALC gene