Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease

Antoine, J. C.; M, Tommasi; Boucheron, S; Convers, Philippe; Laurent, Bernard; Michel, D

doi:10.1016/0022-510x(91)90255-6

Cited by 28 publications

(22 citation statements)

References 20 publications

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“…The present case fits well with their description of illness. Syringomyelia-like syndromes such as, Tangier disease [2,3], chronic sensory ataxic neuropathy with antdisialosyl IgM antibodies [4], sarcoid neuropathy, [5], Sjogren's neuropathy [6], a pharyngeal-cervical-brachial variant of GuillainBarré syndrome [7][8][9], primary amyloidosis with cranial neuropathy [10] and other conditions simulating FOSMN syndrome were excluded based on symptoms and laboratory data.…”

Section: Discussionmentioning

confidence: 99%

Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies

Hokonohara

Sekiya

Kawano

et al. 2008

Journal of the Neurological Sciences

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Section: Discussionmentioning

confidence: 99%

Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies

Hokonohara

Sekiya

Kawano

et al. 2008

Journal of the Neurological Sciences

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“…Mutations in the ABCA1 gene cause Tangier disease that is associated with cellular cholesterol accumulation, premature atherosclerosis and peripheral neuropathy [3,4]. ABCA3 is highly expressed by lung alveolar type II cells that synthesize and secrete pulmonary surfactant [5].…”

Section: Introductionmentioning

confidence: 99%

Quantitation of ATP-binding cassette subfamily-A transporter gene expression in primary human brain cells

et al. 2006

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Five ATP-binding cassette (ABC) subfamily-A transporters (ABCA1, ABCA2, ABCA3, ABCA7 and ABCA8) are expressed in the brain. These transporters may regulate brain lipid transport; however, their relative expression level in isolated human brain cells is unknown. We developed real-time polymerase chain reaction assays to quantify the expression of these genes in human neurons, astrocytes, oligodendrocytes, microglia and cell lines. Neurons expressed predominantly ABCA1 and ABCA3; astrocytes ABCA1, ABCA2 and ABCA3; microglia ABCA1 and oligodendrocytes ABCA2 and ABCA3. Although ABCA7 and ABCA8 expression was relatively low in all cells, the highest expression occurred in microglia and neurons, respectively. ABCA gene expression in the NTERA-2 and MO3.13 cell lines closely resembled the ABCA expression pattern of primary neurons and oligodendrocytes, respectively.

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“…Nerve dysfunction more commonly manifests as a remitting-relapsing multifocal neuropathy with sensory abnormalities. Lipid accumulation in the paranodal regions of myelinating Schwann cells has been implicated in the pathogenesis of nerve conduction delay or block (27). Rarely, Tangier disease has been associated with a debilitating syringomyelia-like neuropathy in which muscle wasting and anesthesia involve the face and the upper limbs before extending downward to the trunk and lower extremities.…”

Section: Tangier Diseasementioning

confidence: 99%

“…Rarely, Tangier disease has been associated with a debilitating syringomyelia-like neuropathy in which muscle wasting and anesthesia involve the face and the upper limbs before extending downward to the trunk and lower extremities. The mechanism remains uncertain but appears to involve primary neuronopathy of the dorsal roots (27).…”

Section: Tangier Diseasementioning

confidence: 99%

Approach to the Patient with Extremely Low HDL-Cholesterol

Rader

deGoma

2012

The Journal of Clinical Endocrinology & Metabolism

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Patients with extremely low high-density lipoprotein-cholesterol (HDL-C) pose distinct challenges to clinical diagnosis and management. Confirmation of HDL-C levels below 20 mg/dl in the absence of severe hypertriglyceridemia should be followed by evaluation for secondary causes, such as androgen use, malignancy, and primary monogenic disorders, namely, apolipoprotein A-I mutations, Tangier disease, and lecithin-cholesterol acyltransferase deficiency. Global cardiovascular risk assessment is a critical component of comprehensive evaluation, although the association between extremely low HDL-C levels and atherosclerosis remains unclear. Therapeutic interventions address reversible causes of low HDL-C, multiorgan abnormalities that may accompany primary disorders and cardiovascular risk modification when appropriate. Uncommon encounters with patients exhibiting extremely low HDL-C provide an opportunity to directly observe the role of HDL metabolism in atherosclerosis and beyond the vascular system.

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Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease

Cited by 28 publications

References 20 publications

Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies

Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies

Quantitation of ATP-binding cassette subfamily-A transporter gene expression in primary human brain cells

Approach to the Patient with Extremely Low HDL-Cholesterol

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