Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

被引：29

作者：

Guber, Robert D. ^{[1
]}

Takyar, Varun ^{[2
]}

Kokkinis, Angela ^{[1
]}

Fox, Derrick A. ^{[1
]}

Alao, Hawwa ^{[2
]}

Kats, Ilona ^{[1
]}

Bakar, Dara ^{[1
]}

Remaley, Alan T. ^{[3
]}

Hewitt, Stephen M. ^{[4
]}

Kleiner, David E. ^{[4
]}

Liu, Chia-Ying ^{[5
]}

Hadigan, Colleen ^{[6
]}

Fischbeck, Kenneth H. ^{[1
]}

Rotman, Yaron ^{[2
]}

Grunseich, Christopher ^{[1
]}

机构：

[1] NINDS, Neurogenet Branch, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[2] NIDDK, Liver Dis Branch, Bethesda, MD 20892 USA

[3] NHLBI, Cardiovasc & Pulm Branch, Bldg 10, Bethesda, MD 20892 USA

[4] NCI, Pathol Lab, Bldg 10, Bethesda, MD 20892 USA

[5] NIAID, Radiol & Imaging Sci, Ctr Clin, 9000 Rockville Pike, Bethesda, MD 20892 USA

[6] NIH, Bldg 10, Bethesda, MD 20892 USA

来源：

NEUROLOGY | 2017年 / 89卷 / 24期

关键词：

ANDROGEN RECEPTOR; HEPATIC STEATOSIS; MOUSE MODEL; INSULIN-RESISTANCE; CLINICAL-FEATURES; MR SPECTROSCOPY; TESTOSTERONE; ASSOCIATION; SUPPRESSION; EXPRESSION;

D O I：

10.1212/WNL.0000000000004748

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA). Methods: Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were done in 4 participants with SBMA. Results: Evidence of fatty liver disease was detected by magnetic resonance spectroscopy in all participants with SBMA in the first group, with an average dome intrahepatic triacylglycerol of 27% (range 6%-66%, ref <= 5.5%). Liver dome magnetic resonance spectroscopy measurements were significantly increased in participants with SBMA in the second group relative to age-and sex-matched controls, with average disease and male control measurements of 17% and 3%, respectively. Liver biopsies were consistent with simple steatosis in 2 participants and nonalcoholic steatohepatitis in 2 others. Conclusions: We observed evidence of nonalcoholic liver disease in nearly all of the participants with SBMA evaluated. These observations expand the phenotypic spectrum of the disease and provide a potential biomarker that can be monitored in future studies.

引用

页码：2481 / 2490

页数：10

共 39 条

[1] Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice [J].

Abel, A ;

Walcott, J ;

Woods, J ;

Duda, J ;

Merry, DE .

HUMAN MOLECULAR GENETICS, 2001, 10 (02) :107-116

[2] The NAFLD fibrosis score: A noninvasive system that identifies liver fibrosis in patients with NAFLD [J].

Angulo, Paul ;

Hui, Jason M. ;

Marchesini, Giulio ;

Bugianesi, Ellisabetta ;

George, Jacob ;

Farrell, Geoffrey C. ;

Enders, Felicity ;

Saksena, Sushma ;

Burt, Alastair D. ;

Bida, John P. ;

Lindor, Keith ;

Sanderson, Schuyler O. ;

Lenzi, Marco ;

Adams, Leon A. ;

Kench, James ;

Therneau, Terry M. ;

Day, Christopher P. .

HEPATOLOGY, 2007, 45 (04) :846-854

[3] Liver Fibrosis, but No Other Histologic Features, Is Associated With Long-term Outcomes of Patients With Nonalcoholic Fatty Liver Disease [J].

Angulo, Paul ;

Kleiner, David E. ;

Dam-Larsen, Sanne ;

Adams, Leon A. ;

Bjornsson, Einar S. ;

Charatcharoenwitthaya, Phunchai ;

Mills, Peter R. ;

Keach, Jill C. ;

Lafferty, Heather D. ;

Stahler, Alisha ;

Haflidadottir, Svanhildur ;

Bendtsen, Flemming .

GASTROENTEROLOGY, 2015, 149 (02) :389-+

[4]

[Anonymous], 2015, DIETARY GUIDELINES A

[5] Brugada syndrome in spinal and bulbar muscular atrophy [J].

Araki, Amane ;

Katsuno, Masahisa ;

Suzuki, Keisuke ;

Banno, Haruhiko ;

Suga, Noriaki ;

Hashizume, Atsushi ;

Mano, Tomoo ;

Hijikata, Yasuhiro ;

Nakatsuji, Hideaki ;

Watanabe, Hirohisa ;

Yamamoto, Masahiko ;

Makiyama, Takeru ;

Ohno, Seiko ;

Fukuyama, Megumi ;

Morimoto, Shin-ichiro ;

Horie, Minoru ;

Sobue, Gen .

NEUROLOGY, 2014, 82 (20) :1813-1821

[6] Nonalcoholic Fatty Liver Disease Is Associated with Low Circulating Levels of Insulin-Like Growth Factor-I [J].

Arturi, Franco ;

Succurro, Elena ;

Procopio, Cristina ;

Pedace, Elisabetta ;

Mannino, Gaia Chiara ;

Lugara, Marina ;

Procopio, Teresa ;

Andreozzi, Francesco ;

Sciacqua, Angela ;

Hribal, Marta Letizia ;

Perticone, Francesco ;

Sesti, Giorgio .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (10) :E1640-E1644

[7] Low testosterone and non-alcoholic fatty liver disease: Evidence for their independent association in men with chronic spinal cord injury [J].

Barbonetti, Arcangelo ;

Vassallo, Maria Rosaria Caterina ;

Cotugno, Michele ;

Felzani, Giorgio ;

Francavilla, Sandro ;

Francavilla, Felice .

JOURNAL OF SPINAL CORD MEDICINE, 2016, 39 (04) :443-449

[8] Endoplasmic reticulum stress related molecular mechanisms in nonalcoholic steatohepatitis [J].

Bozaykut, Perinur ;

Sahin, Ali ;

Karademir, Betul ;

Ozer, Nesrin Kartal .

MECHANISMS OF AGEING AND DEVELOPMENT, 2016, 157 :17-29

[9] Prevalence of hepatic steatosis in an urban population in the United States: Impact of ethnicity [J].

Browning, JD ;

Szczepaniak, LS ;

Dobbins, R ;

Nuremberg, P ;

Horton, JD ;

Cohen, JC ;

Grundy, SM ;

Hobbs, HH .

HEPATOLOGY, 2004, 40 (06) :1387-1395

[10] The diagnosis and management of non-alcoholic fatty liver disease: Practice Guideline by the American Association for the Study of Liver Diseases, American College of Gastroenterology, and the American Gastroenterological Association [J].

Chalasani, Naga ;

Younossi, Zobair ;

Lavine, Joel E. ;

Diehl, Anna Mae ;

Brunt, Elizabeth M. ;

Cusi, Kenneth ;

Charlton, Michael ;

Sanyal, Arun J. .

HEPATOLOGY, 2012, 55 (06) :2005-2023

← 1 2 3 4 →