التفاصيل البيبلوغرافية
| العنوان: |
Cerebrotendinous xanthomatosis: report of two Brazilian brothers |
| المؤلفون: |
Lange, Marcos Christiano, Zétola, Viviane Flumignan, Teive, Helio A.G., Scola, Rosana H., Trentin, Ana Paula, Zavala, Jorge A., Pereira, Eduardo R., Raskin, Salmo, Werneck, Lineu C., Sistermans, Erik A. |
| المصدر: |
Arquivos de Neuro-Psiquiatria. December 2004 62(4) |
| بيانات النشر: |
Academia Brasileira de Neurologia - ABNEURO, 2004. |
| سنة النشر: |
2004 |
| مصطلحات موضوعية: |
cerebrotendinous xanthomatosis, sterol 27-hydroxylase, CYP27A1 |
| الوصف: |
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. Both patients had bilateral Achilles tendon xanthomata. Magnetic resonance image showed signal alterations in cerebellar hemispheres. We describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. The CYP27A1 gene study showed a C1187T mutation on exon 6. |
| نوع الوثيقة: |
article |
| وصف الملف: |
text/html |
| اللغة: |
English |
| تدمد: |
0004-282X |
| DOI: |
10.1590/S0004-282X2004000600028 |
| URL الوصول: |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2004000600028 |
| Rights: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edssci.S0004.282X2004000600028 |
| قاعدة البيانات: |
SciELO |