A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation

Ceccanti, Marco; Cambieri, Chiara; Frasca, Vittorio; Onesti, Emanuela; Biasiotta, A.; Giordano, Carla; Bruno, Sabina Maria; Testino, Giancarlo; Lucarelli, Marco; Arca, Marcello; Inghilleri, Maurizio

doi:10.3389/fneur.2016.00185

Cited by 19 publications

(16 citation statements)

References 40 publications

(41 reference statements)

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“…However, the mechanisms of peripheral neuropathy in TD are still unclear . Demyelinating findings in electrophysiologic studies are recognized in TD neuropathy . In our analysis, we found that nerve conduction abnormalities were more prominent in the upper extremities than in the lower extremities, and the sural‐sparing pattern was rather frequent as similar as CIDP.…”

Section: Discussionmentioning

confidence: 61%

“…33,49 Demyelinating findings in electrophysiologic studies are recognized in TD neuropathy. 15,36,44,59 In our analysis, we found that nerve conduction abnormalities were more prominent in the upper extremities than in the lower extremities, and the sural- Unkn.…”

Section: Discussionmentioning

confidence: 63%

“…MEDLINE was searched for all studies published from 1960 to 2017 using terms “tangier disease,” “ ABCA1 ,” and ”HDL deficiency.” In this study, we included cases with peripheral neuropathy who had detected homozygote or compound heterozygous for ABCA1 mutations or cholesterol accumulation in tissues together with low HDL . Clinical history, demographic data, clinical course, and laboratory and electrophysiologic findings of cases with TD neuropathy were reviewed.…”

Section: Methodsmentioning

confidence: 99%

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Peripheral neuropathy in Tangier disease: A literature review and assessment

Mercan

Yayla

Altınay

et al. 2018

J Peripheral Nervous Sys

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Tangier disease (TD) (OMIM#205400) is a rare cause of inherited metabolic neuropathies characterized by marked deficiency of high-density lipoproteins and accumulation of cholesterol esters in various tissue resulting from reverse cholesterol transport deficiency. We report a case of a patient with TD with multifocal demyelinating neuropathy with conduction block who presents with winging scapula, tongue, and asymmetric extremity weakness. We also present a review of all studies published from 1960 to 2017 regarding peripheral neuropathy in TD. Our search identified 54 patients with TD with peripheral neuropathy. Syringomyelia-like neuropathy subtype (52.4%) was more frequent than multifocal sensorial and motor neuropathy subtype (26.2%), focal neuropathy subtype (19.1%), and distal symmetric polyneuropathy subtype (2.4%). Splenomegaly was the most common (40.7%) clinical manifestation in these patients. The pattern of electrodiagnostic abnormalities are: (1) demyelinating abnormalities were more predominant in the upper extremities than in the lower extremities and (2) slowing of motor nerve conduction was more prominent in the intermediate segment than in distal nerve segments. The sural-sparing pattern was present in 34.6% and conduction block was present in 11.5% of the patients. Our literature review and our case showed the clinical spectrum of TD neuropathy is quite wide and that it should be considered in the differential diagnosis of non-uniform demyelinating neuropathies.

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Section: Discussionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 63%

Section: Methodsmentioning

confidence: 99%

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Peripheral neuropathy in Tangier disease: A literature review and assessment

Mercan

Yayla

Altınay

et al. 2018

J Peripheral Nervous Sys

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“…The Medical Research Council (MRC) scale was used to measure muscle strength. The detailed family pedigree is displayed in the previously mentioned publication . High‐density lipoprotein levels were nondetectable in patients 1 and 2, and 44 mg/dl (normal >45 mg/dl) in patient 3.…”

Section: Methodsmentioning

confidence: 99%

“…Although neurological involvement in TD is widely heterogeneous, 3 different, often overlapping, phenotypes, have been reported: (a) mononeuritis multiplex with upper limb predominance and frequent facial involvement, in which both axonal and demyelinating features have been described; (b) syringomyelia‐like syndrome, with non–length‐dependent loss of small fibers; and (c) widespread nerve involvement with diffuse axonal loss . Recently, an Italian TD family, carrying a novel Y1698X nonsense mutation in ABCA1 , has been reported . Nerve high‐resolution ultrasound (HRUS) is a noninvasive inexpensive tool for evaluating peripheral nerve morphology that has been applied in acquired and inherited neuropathies .…”

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confidence: 99%

Nerve high‐resolution ultrasonography in tangier disease

et al. 2019

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Introduction: Tangier disease (TD) is an autosomal recessive disorder characterized by severe reduction in high‐density lipoprotein and accumulation of cholesterol esters in peripheral nerves and other tissues. The aim of this study was to evaluate whether nerve high‐resolution ultrasonography (HRUS) can detect morphological nerve changes in TD. Methods: Three related patients of a previously reported Italian family with Tangier disease, carrying the Y1698X mutation in ABCA1, underwent clinical, neurophysiological, and quantitative nerve HRUS evaluation. Nerve HRUS data were compared with normal controls. Results: Despite neurophysiological abnormalities, no quantitative HRUS abnormality was detected in peripheral nerves. Discussion: Normalcy of HRUS in neurophysiologically abnormal nerves suggests possible subtle abnormalities that escape quantitative HRUS detection. Systematic studies in larger TD cohorts with different mutations are needed to confirm our findings. Muscle Nerve 59:587–587, 2019

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Astrocyte‐specific loss of lactoferrin influences neuronal structure and function by interfering with cholesterol synthesis

Pang

Fan

et al. 2022

Glia

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Growing evidence indicates that circulating lactoferrin (Lf) is implicated in peripheral cholesterol metabolism disorders. It has emerged that the distribution of Lf changes in astrocytes of aging brains and those exhibiting neurodegeneration; however, its physiological and/or pathological role remains unknown. Here, we demonstrate that astrocyte‐specific knockout of Lf (designated cKO) led to decreased body weight and cognitive abnormalities during early life in mice. Accordingly, there was a reduction in neuronal outgrowth and synaptic structure in cKO mice. Importantly, Lf deficiency in the primary astrocytes led to decreased sterol regulatory element binding protein 2 (Srebp2) activation and cholesterol production, and cholesterol content in cKO mice and/or in astrocytes was restored by exogenous Lf or a Srebp2 agonist. Moreover, neuronal dendritic complexity and total dendritic length were decreased after culture with the culture medium of the primary astrocytes derived from cKO mice and that this decrease was reversed after cholesterol supplementation. Alternatively, these alterations were associated with an activation of AMP‐activated protein kinase (AMPK) and inhibition of SREBP2 nuclear translocation. These data suggest that astrocytic Lf might directly or indirectly control in situ cholesterol synthesis, which may be implicated in neurodevelopment and several neurological diseases.

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A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation

Cited by 19 publications

References 40 publications

Peripheral neuropathy in Tangier disease: A literature review and assessment

Peripheral neuropathy in Tangier disease: A literature review and assessment

Nerve high‐resolution ultrasonography in tangier disease

Astrocyte‐specific loss of lactoferrin influences neuronal structure and function by interfering with cholesterol synthesis

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