Leigh syndrome: One disorder, more than 75 monogenic causes

被引：366

作者：

Lake, Nicole J. ^{[1
,2
]}

Compton, Alison G. ^{[1
,2
]}

Rahman, Shamima ^{[3
]}

Thorburn, David R. ^{[1
,2
,4
]}

机构：

[1] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia

[2] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[3] Univ Coll London & Metab Unit, Inst Child Hlth, Great Ormond St Hosp, Genet & Genom Med,Mitochondrial Res Grp, London, England

[4] Royal Childrens Hosp, Victorian Clin Genet Serv, Melbourne, Vic, Australia

来源：

ANNALS OF NEUROLOGY | 2016年 / 79卷 / 02期

基金：

英国医学研究理事会; 澳大利亚国家健康与医学研究理事会;

关键词：

COMPLEX I DEFICIENCY; C-OXIDASE DEFICIENCY; SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY; MITOCHONDRIAL-DNA; M.13513G-GREATER-THAN-A MUTATION; NEUROPATHOLOGICAL FINDINGS; BIOTINIDASE DEFICIENCY; CLINICAL-FEATURES; POLYMERASE GAMMA; FOUNDER MUTATION;

D O I：

10.1002/ana.24551

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made in understanding its etiological basis. We review the diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiological, and metabolic features that can provide clues for diagnosis. We discuss the emergence of genotype-phenotype correlations, insights gleaned into the molecular basis of disease, and available therapeutic options. Ann Neurol 2016;79:190-203

引用

页码：190 / 203

页数：14

共 116 条

[1]

Arii J, 2000, AM J NEURORADIOL, V21, P1502

[2]

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome [J].

Assouline, Z. ;

Jambou, M. ;

Rio, M. ;

Bole-Feysot, C. ;

de Lonlay, P. ;

Barnerias, C. ;

Desguerre, I. ;

Bonnemains, C. ;

Guillermet, C. ;

Steffann, J. ;

Munnich, A. ;

Bonnefont, J. P. ;

Roetig, A. ;

Lebre, A. S. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2012, 1822 (06) :1062-1069

[3]

Biotin deficiency inhibits heme synthesis and impairs mitochondria in human lung fibroblasts [J].

Atamna, Hani ;

Newberry, Justin ;

Erlitzki, Ronit ;

Schultz, Carla S. ;

Ames, Bruce N. .

JOURNAL OF NUTRITION, 2007, 137 (01) :25-30

[4]

A guide to diagnosis and treatment of Leigh syndrome [J].

Baertling, Fabian ;

Rodenburg, Richard J. ;

Schaper, Joerg ;

Smeitink, Jan A. ;

Koopman, Werner J. H. ;

Mayatepek, Ertan ;

Morava, Eva ;

Distelmaier, Felix .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (03) :257-265

[5]

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 [J].

Baker, Peter R., II ;

Friederich, Marisa W. ;

Swanson, Michael A. ;

Shaikh, Tamim ;

Bhattacharya, Kaustuv ;

Scharer, Gunter H. ;

Aicher, Joseph ;

Creadon-Swindell, Geralyn ;

Geiger, Elizabeth ;

MacLean, Kenneth N. ;

Lee, Wang-Tso ;

Deshpande, Charu ;

Freckmann, Mary-Louise ;

Shih, Ling-Yu ;

Wasserstein, Melissa ;

Rasmussen, Malene B. ;

Lund, Allan M. ;

Procopis, Peter ;

Cameron, Jessie M. ;

Robinson, Brian H. ;

Brown, Garry K. ;

Brown, Ruth M. ;

Compton, Alison G. ;

Dieckmann, Carol L. ;

Collard, Renata ;

Coughlin, Curtis R., II ;

Spector, Elaine ;

Wempe, Michael F. ;

Van Hove, Johan L. K. .

BRAIN, 2014, 137 :366-379

[6]

BIOTINIDASE DEFICIENCY - A CAUSE OF SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH SYNDROME) - REPORT OF A CASE WITH LETHAL OUTCOME [J].

BAUMGARTNER, ER ;

SUORMALA, TM ;

WICK, H ;

PROBST, A ;

BLAUENSTEIN, U ;

BACHMANN, C ;

VEST, M .

PEDIATRIC RESEARCH, 1989, 26 (03) :260-266

[7]

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4 fky fky mouse [J].

Bird, Matthew J. ;

Wijeyeratne, Xiaonan W. ;

Komen, Jasper C. ;

Laskowski, Adrienne ;

Ryan, Michael T. ;

Thorburn, David R. ;

Frazier, Ann E. .

BIOSCIENCE REPORTS, 2014, 34 :701-715

[8]

MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY [J].

BOURGERON, T ;

RUSTIN, P ;

CHRETIEN, D ;

BIRCHMACHIN, M ;

BOURGEOIS, M ;

VIEGASPEQUIGNOT, E ;

MUNNICH, A ;

ROTIG, A .

NATURE GENETICS, 1995, 11 (02) :144-149

[9]

Mapping NAD+ metabolism in the brain of ageing Wistar rats: potential targets for influencing brain senescence [J].

Braidy, Nady ;

Poljak, Anne ;

Grant, Ross ;

Jayasena, Tharusha ;

Mansour, Hussein ;

Chan-Ling, Tailoi ;

Guillemin, Gilles J. ;

Smythe, George ;

Sachdev, Perminder .

BIOGERONTOLOGY, 2014, 15 (02) :177-198

[10]

Type IV 3-methylglutaconic (3-MGC) aciduria: A new case presenting with hepatic dysfunction [J].

Broide, E ;

Elpeleg, O ;

Lahat, E .

PEDIATRIC NEUROLOGY, 1997, 17 (04) :353-355

← 1 2 3 4 5 6 7 8 9 10 →