Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies

Brain

Volumn 126, Issue 12, 2003, Pages 2761-2772

  Le Ber, Isabelle ^a,b   Moreira, Maria Ceù ^c   Rivaud Péchoux, Sophie ^b   Chamayou, Céline ^a   Ochsner, François ^d   Kuntzer, Thierry ^d   Tardieu, Marc ^e   Saïd, Gérard ^e   Habert, Marie Odile ^a   Demarquay, Geneviève ^f   Tannier, Christian ^g   Beis, Jean Marie ^h   Brice, Alexis ^a,b   Koenig, Michel ^c   Dürr, Alexandra ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e BICÊTRE HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g Centre Hospitalier de Carcassonne   (France)

^h Centre de Readaptation Fonctionnelle   (France)

Author keywords

AOA1; APTX gene; Cerebellar ataxia; Friedreich's ataxia; Oculomotor apraxia

Indexed keywords

APRATAXIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ADULT; APRAXIA; ARTICLE; BABINSKI REFLEX; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CHOREA; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE CARRIER; FEMALE; FRIEDREICH ATAXIA; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUNTINGTON CHOREA; HYPERCHOLESTEROLEMIA; HYPOALBUMINEMIA; MALE; MUTATION RATE; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOGRAPHY; OCULOMOTOR APRAXIA TYPE 1; ONSET AGE; OPHTHALMOPLEGIA; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SENSORIMOTOR NEUROPATHY;

ADULT; APRAXIAS; CEREBELLAR ATAXIA; COGNITION DISORDERS; DISEASE PROGRESSION; DNA-BINDING PROTEINS; ELECTROOCULOGRAPHY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROPSYCHOLOGICAL TESTS; NUCLEAR PROTEINS; OCULAR MOTILITY DISORDERS; PHENOTYPE; SURAL NERVE;

EID: 0344875066     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg283     Document Type: Article

References (35)

1. Aicardi J, Barbosa C, Andermann E, Andermann F, Morcas R, Ghanem Q, et al. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol 1988; 24: 497-502.
2. Barbot C, Coutinho P, Chorao R, Ferreira C, Barros J, Fineza I, et al. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol 2001; 58: 201-5.
3. Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, 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: 986-90.
4. Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Am J Ophthalmol 1953; 36: 433-41.
5. Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminaemia is caused by mutations in a new HIT superfamily gene. Nature Genet 2001; 29: 184-8.
6. de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet 2000; 66: 136-42.
7. Delis DC, Kramer JHK, Kaplan E, Ober BA. California Verbal Learning Test. Research ed. New York: Psychological Corporation; 1987.
8. Di Donato S, Gellera C, Mariotti C. The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurol Sci 2001; 22: 219-28.
9. Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New Engl J Med 1996; 335: 1169-75.
10. Folstein MF, Folstein SE, McHugh PR. 'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189-98.
11. Fukuhara N, Nakajima T, Sakajiri K, Matsubara N, Fujita M. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease. J Neurol Sci 1995; 133: 140-51.
12. Hanihara T, Kubota H, Amano N, Iwamoto H, Iwabuchi K. Siblings of early onset cerebellar ataxia with hypoalbuminemia. Rinsho Shinkeigaku 1995; 35: 83-6.
13. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104: 589-620.
14. Inoue N, Izumi K, Mawatari S, Shida K, Kuroiwa Y. Congenital ocular motor apraxia and cerebellar degeneration-report of two cases. Rinsho Shinkeigaku 1971; 11: 855-61.
15. Kubota H, Sunohara N, Iwabuchi K, Hanihara A, Nagatomo H, Amano N, et al. Familial early onset cerebellar ataxia with hypoalbuminemia. No To Shinkei 1995; 47: 289-94.
16. Leigh RJ, Zee DS. The neurology of eye movements. 3rd ed. New York: Oxford University Press; 1999.
17. Mattis S. Dementia Rating Scale. Odessa (FL): Psychological Assessment Resources; 1988.
18. Montgomery SA, Asberg M. A new depression scale designed to be sensitive to change. Br J Psychiatry 1979; 134: 382-9.
19. Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J, et al. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001a; 68: 501-8.
20. Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genet 2001b; 29: 189-93.
21. Nelson HE. A modified card sorting test sensitive to frontal lobe defects. Cortex 1976; 12: 313-24.
22. Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, et al. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000; 67: 1320-6.
23. Onodera O, Date H, Yokoseki A, Igarashi S, Tanaka H, Tsuji S. Early-onset ataxia with ocular motor ataxia and hypoalbuminemia (EOAH), a variant form of Friedreich's ataxia. Clinical and genetic analyses. Mov Disord 2002; 17 Suppl 5: S312-13.
24. Pillon B, Gouider-Khouja N, Deweer B, Vidaihet M, Malapani C, Dubois B, et al. Neuropsychological pattern of striatonigral degeneration: comparison with Parkinson's disease and progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 1995; 58: 174-9.
25. Raven JC, Court JH, Raven J. Manual for Raven's progressive matrices and vocabulary scales. Oxford: Oxford Psychologists Press; 1988.
26. Rivaud-Pechoux S, Durr A, Gaymard B, Cancel G, Ploner CJ, Agid, Y, et al. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. Ann Neurol 1998; 43: 297-302.
27. Sekijima Y, Ohara S, Nakagawa S, Tabata K, Yoshida K, Ishigame H, 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: 30-7.
28. Shimazaki H, Takiyama Y, Sakoe K, Ikegucji K, Niijima K, Kaneko J, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002; 59: 590-5.
29. Stevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dode C, et al. CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. Neurology 2002; 58: 965-7.
30. Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. Eur Neurol 2000; 43: 82-7.
31. Takashima H, Boerkoel CF, John J, Safi GM, Salih MA, Armstrong D, et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genet 2002; 32: 267-72.
32. Thuillard F, Assal G. Données neuropsychologiques chez le sujet âgé normal. In: Habib M, Joanette Y, Puel M, editors. Démences et syndromes démentiels. Approche neuropsychologique. Paris: Masson; 1991. p. 125-33.
33. Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM. Phenotypic variability of aprataxin gene mutations. Neurology 2003; 60: 868-70.
34. Uekawa K, Yuasa T, Kawasaki S, Makibuchi T, Ideta T. A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia-a variant form of Friedreich's disease or a new clinical entity? Rinsho Shinkeigaku 1992; 32: 1067-74.
35. Zee DS, Yee RD, Singer HS. Congenital ocular motor apraxia. Brain 1977; 100: 581-99.