Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

被引：74

作者：

Hudson, G

Deschauer, M

Busse, K

Zierz, S

Chinnery, PF

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Univ Halle Wittenberg, Dept Neurol, Halle Saale, Germany

[3] Univ Halle Wittenberg, Teaching Hosp, Berufsgenossenschaftlichen Kliniken Bergmannstros, D-4010 Halle Saale, Germany

来源：

NEUROLOGY | 2005年 / 64卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000149767.51152.83

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents' blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.

引用

页码：371 / 373

页数：3

共 10 条

[1] Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
Agostino, A
Valletta, L
Chinnery, PF
Ferrari, G
Carrara, F
Taylor, RW
Schaefer, AM
Turnbull, DM
Tiranti, V
Zeviani, M
[J]. NEUROLOGY, 2003, 60 (08) : 1354 - 1356
[2] A novel Twinkle gene mutation in autosomal dominant progressive. external ophthalmoplegia
Deschauer, M
Kiefer, R
Blakely, EL
He, LP
Zierz, S
Turnbull, DM
Taylor, RW
[J]. NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 568 - 572
[3] 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
[4] Phenotypic variability in a Spanish family with MNGIE
Gamez, J
Ferreiro, C
Accarino, ML
Guarner, L
Tadesse, S
Martí, RA
Andreu, AL
Raguer, N
Cervera, C
Hirano, M
[J]. NEUROLOGY, 2002, 59 (03) : 455 - 457
[5] MITOCHONDRIAL ENCEPHALOMYOPATHY WITH AUTOSOMAL-DOMINANT INHERITANCE - A CLINICAL AND GENETIC ENTITY OF MITOCHONDRIAL DISEASES
KAWAI, H
AKAIKE, M
YOKOI, K
NISHIDA, Y
KUNISHIGE, M
MINE, H
SAITO, S
[J]. MUSCLE & NERVE, 1995, 18 (07) : 753 - 760
[6] 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
[7] Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
Spelbrink, JN
Li, FY
Tiranti, V
Nikali, K
Yuan, QP
Tariq, M
Wanrooij, S
Garrido, N
Comi, G
Morandi, L
Santoro, L
Toscano, A
Fabrizi, GM
Somer, H
Croxen, R
Beeson, D
Poulton, L
Suomalainen, A
Jacobs, HT
Zeviani, M
Larsson, C
[J]. NATURE GENETICS, 2001, 28 (03) : 223 - 231
[8] Diseases caused by nuclear genes affecting mtDNA stability
Suomalainen, A
Kaukonen, J
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 106 (01): : 53 - 61
[9] Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
Van Goethem, G
Schwartz, M
Löfgren, A
Dermaut, B
Van Broeckhoven, C
Vissing, J
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (07) : 547 - 549
[10] 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

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