Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease

J Neurol. 2012 Jun;259(6):1222-6. doi: 10.1007/s00415-011-6340-2. Epub 2011 Dec 17.

Abstract

Tangier disease (TD) (OMIM#205400) is a rare autosomal recessive disorder resulting from mutations in the ABCA1 gene, leading to decreased levels of plasma high-density lipoproteins (HDL). Peripheral neuropathy is a common finding in this disease, and may present as relapsing/remitting mono/polyneuropathies or as syringomyelia-like neuropathy. We retrospectively analyzed four patients, and report here their clinical, biological, electrophysiological, imaging, and genetic findings. Three patients had a typical pseudosyringomyelic neuropathy including facial diplegia, but asymmetrical onset was observed in one patient who had first been misdiagnosed with Lewis-Sumner syndrome. Electrophysiological pattern was heterogeneous, showing both signs of demyelination and axonal degeneration. Truncating mutations of the ABCA1 gene, including two previously undescribed mutations, were constantly found. Atypical symptom onset and demyelinating features on electrophysiological examination can be misleading in case of pseudosyringomyelic neuropathy. These reports illustrate two different neurological phenotypes in TD, namely the pseudosyringomyelic type and the Lewis-Sumner-like type, and advocate for a systematic assessment of lipid profile including HDL cholesterol in demyelinating neuropathies.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics
  • Adult
  • Electrophysiological Phenomena / physiology
  • Humans
  • Male
  • Middle Aged
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / diagnosis*
  • Peripheral Nervous System Diseases / physiopathology*
  • Retrospective Studies
  • Tangier Disease / complications
  • Tangier Disease / diagnosis*
  • Tangier Disease / physiopathology

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters