An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology ◽  
2003 ◽  
Vol 35 (2) ◽  
pp. 141-144 ◽  
Author(s):  
Hiroya Kato ◽  
Sukenari Koyabu ◽  
Shigenori Aoki ◽  
Takuya Tamai ◽  
Masahiro Sugawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gallbladder Cancer ◽  
Cerebrotendinous Xanthomatosis ◽  
Autopsy Case ◽  
P53 Genes

An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology ◽  
2003 ◽  
Vol 35 (2) ◽  
pp. 141-144
Author(s):  
Hiroya Kato ◽  
Sukenari Koyabu ◽  
Shigenori Aoki ◽  
Takuya Tamai ◽  
Masahiro Sugawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gallbladder Cancer ◽  
Cerebrotendinous Xanthomatosis ◽  
Autopsy Case ◽  
P53 Genes

An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology ◽  
2003 ◽  
Vol 35 (2) ◽  
pp. 141-144 ◽  
Author(s):  
Hiroya Kato ◽  
Sukenari Koyabu ◽  
Shigenori Aoki ◽  
Takuya Tamai ◽  
Masahiro Sugawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gallbladder Cancer ◽  
Cerebrotendinous Xanthomatosis ◽  
Autopsy Case ◽  
P53 Genes

Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis

Neurology ◽  
1998 ◽  
Vol 51 (3) ◽  
pp. 865-867 ◽  
Author(s):  
W. Chen ◽  
S. Kubota ◽  
T. Teramoto ◽  
S. Ishida ◽  
N. Ohsawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Rapid Diagnosis ◽  
Cerebrotendinous Xanthomatosis

scholarly journals Genetic analysis of rhabdomyolysis-associated genes: an autopsy case of metham phetam ine-related hyperthermia and acidosis

2010 ◽  
pp. 345-348
Author(s):  
A. Matsusue ◽  
A. Ishigami ◽  
K. Hara ◽  
M. Kashiwagi ◽  
M. Kageura ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autopsy Case

Polymorphisms of cytochrome P450 1A1, glutathione S-transferase class mu, and tumour protein p53 genes and the risk of developing gallbladder cancer in Japanese

2007 ◽  
Vol 40 (12) ◽  
pp. 881-886 ◽  
Author(s):  
Yasuo Tsuchiya ◽  
Chikako Kiyohara ◽  
Toyoji Sato ◽  
Kazutoshi Nakamura ◽  
Akira Kimura ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Gallbladder Cancer ◽  
Cytochrome P450 1A1 ◽  
Glutathione S Transferase ◽  
Protein P53 ◽  
P53 Genes

scholarly journals Cerebrotendinous xanthomatosis: report of two Brazilian brothers

2004 ◽  
Vol 62 (4) ◽  
pp. 1085-1089 ◽  
Author(s):  
Marcos Christiano Lange ◽  
Viviane Flumignan Zétola ◽  
Helio A.G. Teive ◽  
Rosana H. Scola ◽  
Ana Paula Trentin ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Genetic Analysis ◽  
Magnetic Resonance Image ◽  
Chronic Diarrhea ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Cerebrotendinous Xanthomatosis ◽  
Hydroxylase Deficiency ◽  
Limb Ataxia ◽  
Gene Study

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.

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