Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

I. Colombo, S. Pagliarani, S. Testolin, E. Salsano, L. M. Napoli, A. Bordoni, S. Salani, E. D'Adda, L. Morandi, L. Farina, F. Magri, M. Riva, A. Prelle, M. Sciacco, G. P. Comi, M. Moggio

Research output: Contribution to journalArticle

Abstract

Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G

Original languageEnglish
Pages (from-to)423-428
Number of pages6
JournalNeuromuscular Disorders
Volume25
Issue number5
DOIs
Publication statusPublished - Sep 15 2014

    Fingerprint

Keywords

  • 1,4-Alpha-glucan branching enzyme
  • Adult Polyglucosan Body Disease
  • GBE1
  • Leukodystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology
  • Medicine(all)

Cite this

Colombo, I., Pagliarani, S., Testolin, S., Salsano, E., Napoli, L. M., Bordoni, A., Salani, S., D'Adda, E., Morandi, L., Farina, L., Magri, F., Riva, M., Prelle, A., Sciacco, M., Comi, G. P., & Moggio, M. (2014). Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. Neuromuscular Disorders, 25(5), 423-428. https://doi.org/10.1016/j.nmd.2015.01.015