Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

被引：43

作者：

Le Ber, I.

Dubourg, O.

Benoist, J. -F.

Jardel, C.

Mochel, F.

Koenig, M.

Brice, A.

Lombes, A.

Durr, A.

机构：

[1] Univ Paris 06, Hop La Pitie Salpetriere, AP HP, INSERM,U679, Paris, France

[2] Univ Paris 06, Hop La Pitie Salpetriere, APHP, Inst Myol, Paris, France

[3] Hop Robert Debre, AP HP, F-75019 Paris, France

[4] Univ Paris 06, Hop La Pitie Salpetriere, APHP, INSERM,U582, Paris, France

[5] Univ Paris 06, Hop La Pitie Salpetriere, APHP, Inst Myol, Paris, France

[6] Univ Louis Pasteur Strasbourg 1, INSERM, CNRS, Inst Genet & Biol Mol & Cellulare, Illkirch Graffenstaden, France

来源：

NEUROLOGY | 2007年 / 68卷 / 04期

关键词：

D O I：

10.1212/01.wnl.0000252366.10731.43

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1.

引用

收藏

页码：295 / 297

页数：3

相关论文

共 10 条

[1] Ammonia toxicity to the brain and creatine [J].

Bachmann, C ;

Braissant, O ;

Villard, AM ;

Boulat, O ;

Henry, H .

MOLECULAR GENETICS AND METABOLISM, 2004, 81 :S52-S57

[2] Differences in coenzyme Q10 content in deltoid and quadriceps muscles [J].

Benoist, JF ;

Rigal, O ;

Nivoche, Y ;

Martin, C ;

Biou, D ;

Lombès, A .

CLINICA CHIMICA ACTA, 2003, 329 (1-2) :147-148

[3] Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene [J].

Date, H ;

Onodera, O ;

Tanaka, H ;

Iwabuchi, K ;

Uekawa, K ;

Igarashi, S ;

Koike, R ;

Hiroi, T ;

Yuasa, T ;

Awaya, Y ;

Sakai, T ;

Takahashi, T ;

Nagatomo, H ;

Sekijima, Y ;

Kawachi, I ;

Takiyama, Y ;

Nishizawa, M ;

Fukuhara, N ;

Saito, K ;

Sugano, S ;

Tsuji, S .

NATURE GENETICS, 2001, 29 (02) :184-188

[4] BIOCHEMICAL, PHYSIOLOGICAL AND MEDICAL ASPECTS OF UBIQUINONE FUNCTION [J].

ERNSTER, L ;

DALLNER, G .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1995, 1271 (01) :195-204

[5] The effect of HMG-CoA reductase inhibitors on coenzyme Q10 - Possible biochemical/clinical implications [J].

Hargreaves, IP ;

Duncan, AJ ;

Heales, SJR ;

Land, JM .

DRUG SAFETY, 2005, 28 (08) :659-676

[6] Restoring balance to ataxia with coenzyme Q10 deficiency [J].

Hirano, Michio ;

Quinzii, Catarina M. ;

DiMauro, Salvatore .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2006, 246 (1-2) :11-12

[7] Cerebellar ataxia with oculomotor apraxia type 1:: clinical and genetic studies [J].

Le Ber, I ;

Moreira, MC ;

Rivaud-Péchoux, S ;

Chamayou, C ;

Ochsner, F ;

Kuntzer, T ;

Tardieu, M ;

Saïd, G ;

Habert, MO ;

Demarquay, G ;

Tannier, C ;

Beis, JM ;

Brice, A ;

Koenig, M ;

Dürr, A .

BRAIN, 2003, 126 :2761-2772

[8] The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin [J].

Moreira, MC ;

Barbot, C ;

Tachi, N ;

Kozuka, N ;

Uchida, E ;

Gibson, T ;

Mendonça, P ;

Costa, M ;

Barros, J ;

Yanagisawa, T ;

Watanabe, M ;

Ikeda, Y ;

Aoki, M ;

Nagata, T ;

Coutinho, P ;

Sequeiros, J ;

Koenig, M .

NATURE GENETICS, 2001, 29 (02) :189-193

[9] Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation [J].

Quinzii, CM ;

Kattah, AG ;

Naini, A ;

Akman, HO ;

Mootha, VK ;

DiMauro, S ;

Hirano, M .

NEUROLOGY, 2005, 64 (03) :539-541

[10] Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency [J].

Rötig, A ;

Appelkvist, EL ;

Geromel, V ;

Chretien, D ;

Kadhom, N ;

Edery, P ;

Lebideau, M ;

Dallner, G ;

Munnich, A ;

Ernster, L ;

Rustin, P .

LANCET, 2000, 356 (9227) :391-395