The Wobbly Child: An Approach to Inherited Ataxias

Seminars in Pediatric Neurology

Volumn 15, Issue 4, 2008, Pages 194-208

  Bernard, Genevieve ^a   Shevell, Michael ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); ACETAZOLAMIDE; ALPHA TOCOPHEROL; ANTIBIOTIC AGENT; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ATAXIN 1; BENZOIC ACID; BIOTIN; BIOTINIDASE; CARBAMATE KINASE; CHENODEOXYCHOLIC ACID; IDEBENONE; IMMUNOGLOBULIN; ISOVALERYL COENZYME A DEHYDROGENASE; NICOTINAMIDE; ORNITHINE CARBAMOYLTRANSFERASE; PYRUVATE CARBOXYLASE; PYRUVATE DEHYDROGENASE; THIAMINE; UBIQUINONE;

ABETALIPOPROTEINEMIA; ACIDURIA; ARTICLE; ATAXIA; ATAXIA TELANGIECTASIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BIOTINIDASE DEFICIENCY; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CHILD; CLINICAL FEATURE; COENZYME Q DEFICIENCY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE ASSOCIATION; ENZYME DEFECT; ENZYME DEFICIENCY; ETHNICITY; FEMALE; FRIEDREICH ATAXIA; GENETIC ANALYSIS; HARTNUP DISEASE; HUMAN; HYPOBETALIPOPROTEINEMIA; INHERITANCE; KEARNS SAYRE SYNDROME; KETOGENIC DIET; MALE; MAPLE SYRUP URINE DISEASE; MARINESCO SJOGREN SYNDROME; MELAS SYNDROME; MERRF SYNDROME; NARP SYNDROME; ONSET AGE; PRESCHOOL CHILD; PYRUVATE DEHYDROGENASE DEFICIENCY; REFSUM DISEASE; SCHOOL CHILD; TAY SACHS DISEASE; UREA CYCLE DEFECT; X LINKED SIDEROBLASTIC ANEMIA;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; CHILD; DNA-BINDING PROTEINS; FEMALE; FRIEDREICH ATAXIA; HUMANS; INFANT; IRON-BINDING PROTEINS; MALE; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION; TUMOR SUPPRESSOR PROTEINS;

EID: 57349093515     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2008.10.011     Document Type: Article

References (34)

1. Subramony S.H. Ataxic disorders. In: Bradley W.G., Daroff R.B., and Fenichel G.M. (Eds). Neurology in Clinical Practice. ed 4 (2004), Elsevier, Philadelphia, PA 287-292
2. Timmann D., and Diener H.C. Coordination and ataxia. In: Goetz (Ed). Textbook of Clinical Neurology. ed 2 (2003), Elsevier, Philadelphia, PA 299-315
3. Fogel B.L., and Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6 (2007) 245-257
4. Schöls L., Bauer P., Schmidt T., et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet 3 (2004) 291-304
5. Gatti R.A. Ataxia-Telangiectasia. GeneReviews at GeneTests: Medical Genetics Information Resource (1997-2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ataxia-telangiectas Accessed July 27, 2008
6. Nikali K., Suomalainen A., Saharinen J., et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins twinkle and twinky. Hum Mol Genet 14 (2005) 2981-2990
7. Lonnqvist T., Paetau A., Nikali K., et al. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features. J Neurol Sci 161 (1998) 57-65
8. Pagon R.A., and Bird T.D. X-linked sideroblastic anemia and ataxia (2008). GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. 1997-2008 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sider-anemia Accessed July 27, 2008
9. Freeze H.H. Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Curr Mol Med 7 (2007) 389-396
10. Easton D.F. Cancer risks in A-T heterozygotes. Int J Radiat Biol 66 (1994) S177-S182 (suppl)
11. Geoffroy-Perez B., Janin N., Ossian K., et al. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 93 (2001) 288-293
12. Jacquemont S., Hagerman R.J., Leehey M.A., et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291 (2004) 460-469
13. Hagerman R.J., Leavitt B.R., Farzin F., et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74 (2004) 1051-1056
14. Hellier K.D., Hatchwell E., Duncombe A.S., et al. X-linked sideroblastic anaemia with ataxia: Another mitochondrial disease?. J Neurol Neurosurg Psychiatry 70 (2001) 65-69
15. Pagon R.A., Bird T.D., Detter J.C., et al. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet 22 (1985) 267-273
16. DiMauro S., and Schon E.A. Mitochondrial respiratory-chain diseases. N Engl J Med 348 (2003) 2656-2668
17. Hart P.E., Lodi R., Rajagopalan B., et al. Antioxidant treatment of patients with Friedreich ataxia: Four-year follow-up. Arch Neurol 62 (2005) 621-626
18. Mariotti C., Solari A., Torta D., et al. Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial. Neurology 60 (2003) 1676-1679
19. Perlman S.L. Ataxias. Clin Geriatr Med 22 (2006) 859-877
20. Bird T.D. Hereditary ataxia overview. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ataxias Accessed July 27
21. Coutinho P., Barbot C., Moreira da Silva M.C., et al. Ataxia with oculomotor apraxia type 1. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aoa Accessed July 27
22. Moreira M.C., and Koenig M. Ataxia with oculomotor apraxia type 2. GeneReviews at GeneTests: Medical Genetics Information Resource (2007), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aoa2 Accessed July 27, 2008
23. Schuelke M. Ataxia with vitamin E deficiency. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aved Accessed July 27
24. Concannon P.J., and Gatti R.A. Nijmegen breakage syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nijmegen Accessed July 27
25. Robitaille Y., Richter A., and Mathieu J. ARSACS [autosomal recessive spastic ataxia of Charlevoix-Saguenay. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=arsacs Accessed July 27
26. Spacey S. Episodic ataxia type 2. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ea2 Accessed July 27
27. Saul R.A., and Tarleton J.C. FMR1-related disorders. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fragilex Accessed July 27
28. Bidichandani S.I., Delatycki M.B., and Ashizawa T. X-linked sideroblastic anemia and ataxia (2008). GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sider-anemia Accessed July 27
29. Lin X., and Ashizawa T. Spinocerebellar ataxia type 1. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca1 Accessed July 27
30. Pulst S.M. Spinocerebellar ataxia type 2. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca2 Accessed July 27
31. Paulson H. Spinocerebellar ataxia type 3 (2007). GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca3 Accessed July 27
32. Gomez C.M. Spinocerebellar ataxia type 6. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca6 Accessed July 27
33. Hirano R., Salih M.A.S., Takashima H., et al. Spinocerebellar ataxia with axonal neuropathy, autosomal recessive. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scan1 Accessed July 27
34. Dupré N., Gros-Louis F., Bouchard J.P., et al. SYNE1-related autosomal recessive cerebellar ataxia. GeneReviews at GeneTests: Medical Genetics Information Resource (2008), University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=syne1ca-ar Accessed July 27