A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in <i>CYP27A1</i> gene exon 1-Reference-Cited by-同舟云学术

A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1

Published:2016 Issue:10 Volume:56 Page:667-671
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Koge Junpei¹,Hayashi Shintaro¹,Yamaguchi Hiroo¹,Tateishi Takahisa¹,Murai Hiroyuki¹,Kira Jun-ichi¹

Affiliation:

1. Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University

Publisher

Societas Neurologica Japonica

Subject

Neurology (clinical)

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/56/10/56_cn-000823/_pdf

Reference13 articles.

1. 1) Gallus GN, Dotti MT, Federico A, et al. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutation in the CYP27A1 gene. Neurol Sci 2006;27:143-149.

2. 3) Menkes JH, Schimschock JR, Swanson PD. Cerebrotendinous xanthomatosis: the storage of cholestanol within the nervous system. Arch Neurol 1968;19:47-53.

3. 4) Oftebro H, Björkhem I, Skrede S, et al. Cerebrotendinous xanthomatosis; a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest 1980;65:1418-1430.

4. 5) de la Fuente BP, Sobrido MJ, Girós M, et al. Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis. Neurologia 2011;26:397-404.

5. 8) Kasama T, Byun DS, Seyama Y, et al. Quantitative analysis of sterol in serum by high-performance liquid chromatography. Application to the biochemical diagnosis of cerebrotendinous xanthomatosis. J Chromatogr 1987;400:241-246.

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