POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness

被引：60

作者：

Mancuso, M

Filosto, M

Bellan, M

Liguori, R

Montagna, P

Baruzzi, A

DiMauro, S

Carelli, V

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Univ Bologna, Dept Neurol Sci, I-40126 Bologna, Italy

来源：

NEUROLOGY | 2004年 / 62卷 / 02期

关键词：

D O I：

10.1212/WNL.62.2.316

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.

引用

收藏

页码：316 / 318

页数：3

相关论文

共 9 条

[1] Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) [J].

Agostino, A ;

Valletta, L ;

Chinnery, PF ;

Ferrari, G ;

Carrara, F ;

Taylor, RW ;

Schaefer, AM ;

Turnbull, DM ;

Tiranti, V ;

Zeviani, M .

NEUROLOGY, 2003, 60 (08) :1354-1356

[2] Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ [J].

Filosto, M ;

Mancuso, M ;

Nishigaki, Y ;

Pancrudo, J ;

Harati, Y ;

Gooch, C ;

Mankodi, A ;

Bayne, L ;

Bonilla, E ;

Shanske, S ;

Hirano, M ;

DiMauro, S .

ARCHIVES OF NEUROLOGY, 2003, 60 (09) :1279-1284

[3] Defects of intergenomic communication:: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA [J].

Hirano, M ;

Marti, R ;

Ferreiro-Barros, C ;

Vilà, MR ;

Tadesse, S ;

Nishigaki, Y ;

Nishino, I ;

Vu, TH .

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 2001, 12 (06) :417-427

[4] A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions [J].

Komaki, H ;

Fukazawa, T ;

Houzen, H ;

Yoshida, K ;

Nonaka, I ;

Goto, YI .

ANNALS OF NEUROLOGY, 2002, 51 (05) :645-648

[5] Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia [J].

Lamantea, E ;

Tiranti, V ;

Bordoni, A ;

Toscano, A ;

Bono, F ;

Servidei, S ;

Papadimitriou, A ;

Spelbrink, H ;

Silvestri, L ;

Casari, G ;

Comi, GP ;

Zeviani, M .

ANNALS OF NEUROLOGY, 2002, 52 (02) :211-219

[6] Clinical and molecular features of adPEO due to mutations in the Twinkle gene [J].

Lewis, S ;

Hutchison, W ;

Thyagarajan, D ;

Dahl, HHM .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 201 (1-2) :39-44

[7] A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family [J].

Napoli, L ;

Bordoni, A ;

Zeviani, M ;

Hadjigeorgiou, GM ;

Sciacco, M ;

Tiranti, V ;

Terentiou, A ;

Moggio, M ;

Papadimitriou, A ;

Scarlato, G ;

Comi, GP .

NEUROLOGY, 2001, 57 (12) :2295-2298

[8] Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene [J].

Siciliano, G ;

Tessa, A ;

Petrini, S ;

Mancuso, M ;

Bruno, C ;

Grieco, GS ;

Malandrini, A ;

DeFlorio, L ;

Martini, B ;

Federico, A ;

Nappi, G ;

Santorelli, FM ;

Murri, L .

NEUROMUSCULAR DISORDERS, 2003, 13 (02) :162-165

[9] Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia [J].

Van Goethem, G ;

Martin, JJ ;

Dermaut, B ;

Löfgren, A ;

Wibail, A ;

Ververken, D ;

Tack, P ;

Dehaene, I ;

Van Zandijcke, M ;

Moonen, M ;

Ceuterick, C ;

De Jonghe, P ;

Van Broeckhoven, C .

NEUROMUSCULAR DISORDERS, 2003, 13 (02) :133-142