Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.
J Neurol
; 259(6): 1222-6, 2012 Jun.
Article
en En
| MEDLINE
| ID: mdl-22179783
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Tangier
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Enfermedades del Sistema Nervioso Periférico
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Adult
/
Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Neurol
Año:
2012
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
ALEMANHA
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ALEMANIA
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DE
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DEUSTCHLAND
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GERMANY