Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

被引：135

作者：

Quinzii, CM

Kattah, AG

Naini, A

Akman, HO

Mootha, VK

DiMauro, S

Hirano, M

机构：

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

[2] MIT Ctr Genome Res, Whitehead Inst, Cambridge, MA 02142 USA

来源：

NEUROLOGY | 2005年 / 64卷 / 03期

关键词：

D O I：

10.1212/01.WNL.0000150588.75281.58

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene ( APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.

引用

页码：539 / 541

页数：3

共 10 条

[1] Biochemical functions of coenzyme Q10 [J].

Crane, FL .

JOURNAL OF THE AMERICAN COLLEGE OF NUTRITION, 2001, 20 (06) :591-598

[2] 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

[3] Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency [J].

Di Giovanni, S ;

Mirabella, M ;

Spinazzola, A ;

Crociani, P ;

Silvestri, G ;

Broccolini, A ;

Tonali, P ;

Di Mauro, S ;

Servidei, S .

NEUROLOGY, 2001, 57 (03) :515-518

[4] Cerebellar ataxia and coenzyme Q10 deficiency [J].

Lamperti, C ;

Naini, A ;

Hirano, M ;

De Vivo, DC ;

Bertini, E ;

Servidei, S ;

Valeriani, M ;

Lynch, D ;

Banwell, B ;

Berg, M ;

Dubrovsky, T ;

Chiriboga, C ;

Angelini, C ;

Pegoraro, E ;

DiMauro, S .

NEUROLOGY, 2003, 60 (07) :1206-1208

[5] 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

[6] Familial cerebellar ataxia with muscle coenzyme Q10 deficiency [J].

Musumeci, O ;

Naini, A ;

Slonim, AE ;

Skavin, N ;

Hadjigeorgiou, GL ;

Krawiecki, N ;

Weissman, BM ;

Tsao, CY ;

Mendell, JR ;

Shanske, S ;

De Vivo, DC ;

Hirano, M ;

DiMauro, S .

NEUROLOGY, 2001, 56 (07) :849-855

[7] MUSCLE COENZYME-Q DEFICIENCY IN FAMILIAL MITOCHONDRIAL ENCEPHALOMYOPATHY [J].

OGASAHARA, S ;

ENGEL, AG ;

FRENS, D ;

MACK, D .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (07) :2379-2382

[8] 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

[9] Mitochondrial encephalomyopathy with coenzyme Q(10) deficiency [J].

Sobreira, C ;

Hirano, M ;

Shanske, S ;

Keller, RK ;

Haller, RG ;

Davidson, E ;

Santorelli, FM ;

Miranda, AF ;

Bonilla, E ;

Mojon, DS ;

Barreira, AA ;

King, MP ;

DiMauro, S .

NEUROLOGY, 1997, 48 (05) :1238-1243

[10] Coenzyme Q- responsive Leigh's encephalopathy in two sisters [J].

Van Maldergem, L ;

Trijbels, F ;

DiMauro, S ;

Sindelar, PJ ;

Musumeci, O ;

Janssen, A ;

Delberghe, X ;

Martin, JJ ;

Gillerot, Y .

ANNALS OF NEUROLOGY, 2002, 52 (06) :750-754

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