New autosomal recessive cerebellar ataxias with oculomotor apraxia

Current Neurology and Neuroscience Reports

Volumn 5, Issue 5, 2005, Pages 411-417

  Le Ber, Isabelle ^b   Brice, Alexis ^b   Dürr, Alexandra ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; DNA; DOUBLE STRANDED DNA; HELICASE; HISTIDINE; MRE11 PROTEIN; MUTANT PROTEIN; NUCLEAR PROTEIN; PROTEIN P53; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ZINC FINGER PROTEIN;

APRAXIA; ATAXIA; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 9P; CHROMOSOME MAP; DISEASE ASSOCIATION; DNA REPAIR; DNA STRAND BREAKAGE; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC SIMILARITY; HUMAN; MISSENSE MUTATION; NERVE DEGENERATION; OCULOMOTOR NERVE DISEASE; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; REVIEW;

EID: 26444557429     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-005-0066-4     Document Type: Review

References (55)

1. Dürr A, Cossee M, Agid Y, et al.: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996, 335:1169-1175.
2. Cogan DG: A type of congenital ocular motor apraxia presenting jerky head movements. Am J Ophthalmol 1953, 36:433-441.
3. Aicardi J, Barbosa C, Andermann E, et al.: Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol 1988, 24:497-502.
4. Barbot C, Couthino P, Choroa R, et al.: Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol 2001, 58:201-205.
5. Swift M, Heim RA, Lench NJ: Inherited ataxias. In Advances in Neurology, vol 61. Edited by Harding AE, Deufel T. New York: Raven Press; 1993:115-125.
6. Woods CG, Taylor AM: Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992, 82:169-179.
7. Savitsky K, Bar-Shira A, Gilad S, et al.: A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 1995, 268:1749-1753.
8. Campbell C, Mitui M, Eng L, et al.: ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Hum Mutat 2003, 21:80-85.
9. McKinnon PJ: ATM and ataxia telangiectasia. EMBO Rep 2004, 5:772-776.
10. Klein C, Wenning GK, Quinn NP, Marsden CD: Ataxia without telangiectasia masquerading as benign herediatry chorea. Mov Disord 1996, 11:217-220.
11. Stewart GS, Maser RS, Stankovic T, et al.: The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999, 99:577-587.
12. Klein C, Stewart GS, Quinn NP, Taylor AM: Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. Mov Disord 2001, 16:788-789.
13. Pitts SA, Kullar HS, Stankovic T, et al.: hMRE11 : genomic structure and a null mutation identified in a transcript protected from non-sense mediated mRNA decay. Hum Mol Genet 2001, 10:1155-1162.
14. Delia D, Piane M, Busceni G, et al.: MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasi-like disorder. Hum Mol Genet 2004, 18:2155-2163.
15. Fernet M, Gribaa M, Salih MA, et al.: Identification and functional consequences of a novel MRE11 mutation affecting ten Saudi Arabian patients with ataxia telangiectasia-like disorder (ATLD). Hum Mol Genet 2005, 14:307-318.
16. Taylor AM, Groom A, Byrd PJ: Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA repair 2004, 3:1219-1225.
17. Takashima H, Boerkoel CF, John J, et al.: Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002, 32:267-272.
18. El-Khamisy SF, Saifi GM, Weinfeld M, et al.: Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature 2004, 434:108-113.
19. Inoue N, Izumi K, Mawatari S, et al.: Ocular motor apraxia and cerebellar degeneration-report of two cases. Clin Neurol 1971, 11:855-861.
20. Uekawa K, Yuasa T, Kawasaki S, et al.: A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia: a varian form of Friedreich's disease or a new clinical entity? Clin Neurol 1992, 32:1067-1074.
21. Kubota H, Sunohara N, Iwabuchi K, et al.: Familial early onset cerebellar ataxia with hypoalbuminemia. No To Shinkei 1995, 47:289-294.
22. Fukuhara N, Nakajima T, Sakajiri K, et al.: Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease. J Neurol Sci 1995, 133:140-151.
23. Hanihara T, Kubota H, Amano N, et al.: Siblings of early onset cerebellar ataxia with hypoalbuminemia. Rinsho Shinkeigaku 1995, 35:83-86.
24. Sekijima Y, Ohara S, Nakagawa S, et al.: Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family. J Neurol Sci 1998, 158:30-37.
25. Tachi N, Kozuka N, Ohya K, et al.: Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. Eur Neurol 2000, 43: 82-87.
26. Moreira MC, Barbot C, Tachi N, et al.: Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001, 68:501-508.
27. Moreira MC, Barbot C, Tachi N, et al.: The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genet 2001, 29:189-193.
28. Date H, Onodera O, Tanaka H, et al.: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001, 29:184-188.
29. Tranchant C, Fleury M, Moreira MC, et al.: Phenotypic variability of aprataxin gene mutations. Neurology 2003, 60:868-870.
30. Le Ber I, Moreira MC, Rivaud-Péchoux S, et al.: Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003, 126:2761-2772.
31. Amouri R, Moreira MC, Zouari M, et al.: Aprataxin gene mutations in Tunisian families. Neurology 2004, 63:928-929.
32. Criscuolo C, Mancini P, Saccà F, et al.: Ataxia with oculomotor apraxia type 1 in Southern Italy. Neurology 2004, 63:2173-2175.
33. Shimazaki H, Takiyama Y, Sakoe K, et al.: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002, 59:590-595.
34. Sekijima Y, Hashimoto T, Onodera O, et al.: Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation. Mov Disord 2003, 18:1198-1200.
35. Quinzii CM, Kattah AG, Naini A, et al.: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005, 64:539-541.
36. Hirano M, Nishiwaki T, Kariya S, et al.: Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Neurosci Lett 2004, 366:120-125.
37. Gueven N, Becherel OJ, Kijas AW, et al.: Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet 2004, 13:1081-1093.
38. Clements PM, Breslin C, Decks ED, et al.: The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. DNA Repair 2004, 3:1493-1502.
39. Hirano M, Furiya Y, Kariya S, et al.: Loss of function mechanism in aprataxin-related early-onset ataxia. Biochem Biophys Res Commun 2004, 322:380-386.
40. Sano Y, Date H, Igarashi S, et al.: Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Anti Neurol 2004, 55:241-249.
41. Brenner C: Hint, Fhit, and GalT: function, structure, evolution and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. Biochemistry 2002, 41:9003-9014.
42. Bienagowski P, Garrison PN, Hodawadeckar SC, et al.: Adenosine monophosphoraminidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3. J Biol Chem 2002, 277:10852-10860.
43. Krakowiak A, Pace HC, Blackburn GM, et al.: Biochemical, crystallographic, and mutagenic characterization of hint, the AMP-lysine hydrolase, with novel substrates and inhibitors. J Biol Chem 2004, 279:18711-18716.
44. Chun HH, Gatti RA: Ataxia-telangiectasia, an evolving phenotype. DNA repair 2004, 3:1187-1196.
45. Whitehouse CJ, Taylor RM, Thistlethwaite A, et al.: XRRC1 stimulates human polynucleotide kinase activity and damaged termini and accelerates DNA single-strand break repair. Cell 2001, 104:107-117.
46. Date H, Igarashi S, Sano Y, et al.: The FHA domain of aprataxin interacts with the C-terminal region of XRCC1. Biochem Bioph Res Commun 2004, 325:1279-1285.
47. Yang C, Maiguel DA, Carrier F, et al.: Identification of nucleolin and nucleophosmin as genotoxic stress-responsive RNA binding proteins. Nucl Acids Res 2002, 30:2251-2260.
48. Bomont P, Watanabe M, Gersoni-Barush R, et al.: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000, 8:986-990.
49. Nemeth AH, Bochukova E, Dunne E, et al.: Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000, 67:1320-1326.
50. Watanabe M, Sugai Y, Concannon P, et al.: Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatin kinase, gamma-globulin and alpha-foetoprotein. Ann Neurol 1998, 44:265-269.
51. Moreira MC, Klur S, Barbot C, et al.: Autosomal recessive ataxia: a new gene-aprataxin-responsible for ataxia-ocular apraxia 1, and a new locus on chromosome 9q34. Eur J Hum Genet 2002, 10(Suppl 1):272.
52. Moreira MC, Klur S, Watanabe M, et al.: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004, 36:225-227.
53. Le Ber I, Bouslam N, Rivaud-Péhoux S, et al.: Frequency and phenotypic spectrum of ataxia with oculomotor apraxia: a clinical and genetic study in 18 patients. Brain 2004, 127:759-767.
54. Duquette A, Roddier K, McNabb-Baltar J, et al.: Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol 2005, 57:408-414.
55. Chen YZ, Benett CL, Huynh HM, et al.: DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004, 74:1128-1135.