Patient homozygous for a recessive POLG mutation presents with features of MERRF

被引：63

作者：

Van Goethem, G

Mercelis, R

Löfgren, A

Seneca, S

Ceuterick, C

Martin, JJ

Van Broeckhoven, C

机构：

[1] Univ Instelling Antwerp VIB, Dept Mol Genet, B-2610 Antwerp, Belgium

[2] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[3] Univ Antwerp Hosp, Neuromuscular Reference Ctr, Antwerp, Belgium

[4] Univ Instelling Antwerp, Born Bunge Fdn, B-2610 Antwerp, Belgium

[5] Free Univ Brussels, Dept Med Genet, B-1050 Brussels, Belgium

来源：

NEUROLOGY | 2003年 / 61卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000098997.23471.65

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF).

引用

页码：1811 / 1813

页数：3

共 10 条

[1] Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions
Blumenthal, DT
Shanske, S
Schochet, SS
Santorelli, FM
DiMauro, S
Jaynesm, M
Bodensteiner, J
[J]. NEUROLOGY, 1998, 50 (02) : 524 - 525
[2] Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease
Fadic, R
Russell, JA
Vedanarayanan, VV
Lehar, M
Kuncl, RW
Johns, DR
[J]. NEUROLOGY, 1997, 49 (01) : 239 - 245
[3] Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
Lamantea, E
Tiranti, V
Bordoni, A
Toscano, A
Bono, F
Servidei, S
Papadimitriou, A
Spelbrink, H
Silvestri, L
Casari, G
Comi, GP
Zeviani, M
[J]. ANNALS OF NEUROLOGY, 2002, 52 (02) : 211 - 219
[4] DOMINANTLY INHERITED MITOCHONDRIAL MYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA - CLINICAL, MORPHOLOGICAL, AND BIOCHEMICAL-STUDIES
SERVIDEI, S
ZEVIANI, M
MANFREDI, G
RICCI, E
SILVESTRI, G
BERTINI, E
GELLERA, C
DIMAURO, S
DIDONATO, S
TONALI, P
[J]. NEUROLOGY, 1991, 41 (07) : 1053 - 1059
[5] CLINICAL-FEATURES ASSOCIATED WITH THE A-]G TRANSITION AT NUCLEOTIDE-8344 OF MTDNA (MERRF MUTATION)
SILVESTRI, G
CIAFALONI, E
SANTORELLI, FM
SHANSKE, S
SERVIDEI, S
GRAF, WD
SUMI, M
DIMAURO, S
[J]. NEUROLOGY, 1993, 43 (06) : 1200 - 1206
[6] SILVESTRI G, 1992, AM J HUM GENET, V51, P1213
[7] Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Van Goethem, G
Dermaut, B
Löfgren, A
Martin, JJ
Van Broeckhoven, C
[J]. NATURE GENETICS, 2001, 28 (03) : 211 - 212
[8] Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA - Unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification
Van Goethem, G
Martin, JJ
Van Broeckhoven, C
[J]. NEUROMOLECULAR MEDICINE, 2003, 3 (03) : 129 - 146
[9] Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
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
[J]. NEUROMUSCULAR DISORDERS, 2003, 13 (02) : 133 - 142
[10] Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
vanDomburg, PHMF
GabreelsFesten, AAWM
Gabreels, FJM
deCoo, R
Ruitenbeek, W
Wesseling, P
terLaak, H
[J]. BRAIN, 1996, 119 : 997 - 1010

← 1 →