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[PMID]: | 27840382 |
[Au] Autor: | Koyama S; Kato T |
[Ad] Endereço: | Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine. |
[Ti] Título: | Pathophysiology of cerebrotendinous xanthomatosis. |
[So] Source: | Rinsho Shinkeigaku;56(12):821-826, 2016 12 28. | [Is] ISSN: | 1882-0654 |
[Cp] País de publicação: | Japan |
[La] Idioma: | jpn |
[Ab] Resumo: | Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions. To date, more than 50 different CYP27A1 mutations, including missense mutations, frameshifts, and splice site mutations, have been reported worldwide in patients with CTX. Clinical presentation is characterized by neonatal jaundice or cholestasis, refractory diarrhea, juvenile cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and progressive neuropsychiatric disturbances; however, combinations of symptoms vary from patient to patient. Neuropsychiatric abnormalities include mental retardation or dementia, psychiatric symptoms, cerebellar signs, pyramidal signs, progressive myelopathy, peripheral neuropathy, extrapyramidal manifestations, and seizures. Replacement treatment with chenodeoxycholic acid in the early stage of the disease has been reported to improve or even prevent clinical symptoms of CTX. After significant neurological pathology is established, the effect of the treatment is limited and the deterioration of clinical manifestations may continue; therefore, early diagnosis of CTX is crucial. |
[Mh] Termos MeSH primário: |
Xantomatose Cerebrotendinosa
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[Mh] Termos MeSH secundário: |
Ácido Quenodesoxicólico/administração & dosagem Colestanotriol 26-Mono-Oxigenase/genética Colestanol/metabolismo Diagnóstico Diferencial Progressão da Doença Diagnóstico Precoce Seres Humanos Mutação Índice de Gravidade de Doença Xantomatose Cerebrotendinosa/diagnóstico Xantomatose Cerebrotendinosa/genética Xantomatose Cerebrotendinosa/fisiopatologia Xantomatose Cerebrotendinosa/terapia
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[Pt] Tipo de publicação: | JOURNAL ARTICLE; REVIEW |
[Nm] Nome de substância:
| 0GEI24LG0J (Chenodeoxycholic Acid); 8M308U816E (Cholestanol); EC 1.14.15.15 (CYP27A1 protein, human); EC 1.14.15.15 (Cholestanetriol 26-Monooxygenase) |
[Em] Mês de entrada: | 1704 |
[Cu] Atualização por classe: | 171012 |
[Lr] Data última revisão:
| 171012 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 161115 |
[St] Status: | MEDLINE |
[do] DOI: | 10.5692/clinicalneurol.cn-000962 |
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