Evidence map›Paper›PMID 39039599›Full record

ArticleLipids in health and disease2024

Cerebral involvement in sitosterolemia.

Fangjun Li, Xufang Xie, Shan Xu, Fuqing Zhou, Yaqing Yu, Xin Fang, Meihong Zhou, Min Zhu, Daojun Hong

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PubMed Full text at PMC Publisher
In one paragraph

Article in Lipids in health and disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Fangjun LiDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Xufang XieDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Shan XuDepartment of Pathology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi, China.
Fuqing ZhouDepartment of Radiology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi, China.
Yaqing YuDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Xin FangDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Meihong ZhouDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Min ZhuDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Daojun HongDepartment of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China. hongdaojun@hotmail.com.

Funding

Double Thousand Talents Program of Jiangxi Province jxsq2019101021National Natural Science Foundation of China 82160252Natural Science Foundation of Jiangxi Province 20202BAB206029
6 · The paper itself

Abstract

backgroundSitosterolemia, an autosomal recessive condition, is characterized by impaired metabolism of plant sterols. Clinical symptoms include skin xanthoma, premature atherosclerotic disease, arthritis, and unexplained hematological abnormalities. However, there is a dearth of studies on sitosterolemia-related brain damage.

methodsThis study focused on the family of two sitosterolemia patients who presented with severe hypercholesterolemia and xanthoma. Radiological examinations, biopsies, whole-exome sequencing (WES), and plant sterol tests were conducted.

resultsThe index patient, a 66-year-old female, initially exhibited weakness in both lower limbs and later developed urinary and fecal incontinence. Neuroimaging showed that the falx of the brain had irregular fusiform thickening. Significant tissue edema was observed around the lesions in the bilateral frontal-parietal lobes. Pathological analysis of the biopsied brain lesion revealed extensive cholesterol crystal deposition and lymphocyte infiltration in the matrix. The index patient who experienced cerebral impairment and her sister both carried two compound heterozygous variants in ATP binding cassette transporter G5 (ABCG5). These included the nonsense variants NM_022436: c.751 C > T (p.Q251X) in exon 6 and NM_022436: c.1336 C > T (p.R446X) in exon 10. A notable increase in plant sterol levels was observed in the younger sister of the index patient.

conclusionThis study highlights a previously unreported neurological aspect of sitosterolemia. Imaging and pathology findings suggest that cholesterol crystals may be deposited in connective tissues such as the cerebral falx and pia mater through blood circulation.

Indexed as

ATP Binding Cassette Transporter, Subfamily G, Member 5HypercholesterolemiaIntestinal DiseasesLipid Metabolism, Inborn ErrorsPhytosterolsAgedBrainCholesterolExome SequencingFemaleHumansLipoproteinsPedigreeSitosterolsXanthomatosisABCG5 protein, humanATP Binding Cassette Transporter, Subfamily G, Member 5CholesterolLipoproteinsPhytosterolsSitosterolsABCG5Neurological impairmentPlant sterolsSitosterolemiaXanthoma

Identifiers

PMID39039599
PMCPMC11265170

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.