title: Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.
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.
authors.affiliation: Service de Neurologie Neurovasculaire, Groupe Hospitalier Paris-Saint Joseph, 185 rue Raymond Losserand, 75014 Paris, France. juliezyss@yahoo.fr
authors.forename: Julie
authors.initials: J
authors.lastname: Zyss
authors.forename: Anthony
authors.initials: A
authors.lastname: Béhin
authors.forename: Philippe
authors.initials: P
authors.lastname: Couvert
authors.forename: Françoise
authors.initials: F
authors.lastname: Bouhour
authors.forename: Agnès
authors.initials: A
authors.lastname: Sassolas
authors.forename: Ivan
authors.initials: I
authors.lastname: Kolev
authors.forename: Violaine
authors.initials: V
authors.lastname: Denys
authors.forename: Christophe
authors.initials: C
authors.lastname: Vial
authors.forename: A
authors.initials: A
authors.lastname: Lacour
authors.forename: Alain
authors.initials: A
authors.lastname: Carrié
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000328:Adult; D055724:Electrophysiological Phenomena / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology*; D012189:Retrospective Studies; D013631:Tangier Disease / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters