Reviewing the genetic causes of spastic-ataxias

Neurology

Volumn 79, Issue 14, 2012, Pages 1507-1514

  De Bot, Susanne T ^a   Willemsen, Michel A A P ^b   Vermeer, Sascha ^c   Kremer, Hubertus P H ^b   Van De, Bart P C ^a   Warrenburg, ^a  

^a RADBOUD UNIVERSITY   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALEXANDER DISEASE; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT SPINOCEREBELLAR ATAXIAS WITH PYRAMIDAL SIGN; AUTOSOMAL RECESSIVE ATAXIA OF CHARLEVOIX SAGUENAY; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA 3; AUTOSOMAL RECESSIVE SPASTIC ATAXIA 4; AUTOSOMAL RECESSIVE SPASTIC ATAXIA 5; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; FATTY ACID HYDROXYLASE ASSOCIATED NEURODEGENERATION; FRIEDREICH ATAXIA; GENETIC DISORDER; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITY; HUMAN; INHERITANCE; LEUKOENCEPHALOPATHY; MACHADO JOSEPH DISEASE; METABOLIC DISORDER; METABOLISM; NEUROIMAGING; ONSET AGE; PARAPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL SIGN; SPASTIC ATAXIA 1; SPASTIC ATAXIA 2; SPASTICITY; SPINOCEREBELLAR DEGENERATION;

EID: 84867563700     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31826d5fb0     Document Type: Review

References (43)

1. Gasser T, Finsterer J, Baets J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010;17:179-188.
2. Bouchard JP, Richter A, Mathieu J, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 1998;8:474-479.
3. Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-125.
4. Vermeer S, Meijer RP, Pijl BJ, et al. ARSACS in the Dutch population: A frequent cause of early-onset cerebellar ataxia. Neurogenetics 2008;9:207-214.
5. Martin MH, Bouchard JP, Sylvain M, St-Onge O, Truchon S. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A report of MR imaging in 5 patients. AJNR Am J Neuroradiol 2007;28:1606-1608.
6. Shimazaki H, Takiyama Y, Honda J, et al. Middle cerebellar peduncles and pontine T2 hypointensities in ARSACS. J Neuroimaging Epub 2012 Jan 23.
7. Baets J, Deconinck T, Smets K, et al. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 2010;75:1181-1188.
8. Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations. Proc Natl Acad Sci USA 1997;94:7452-7457.
9. Durr 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.
10. Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: Phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol 2005;62:1865-1869.
11. Castelnovo G, Biolsi B, Barbaud A, Labauge P, Schmitt M. Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia. J Neurol Neurosurg Psychiatry 2000;69:693.
12. Gates PC, Paris D, Forrest SM, Williamson R, Gardner RJ. Friedreich's ataxia presenting as adult-onset spastic paraparesis. Neurogenetics 1998;1:297-299.
13. Lhatoo SD, Rao DG, Kane NM, Ormerod IE. Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy. Neurology 2001;56:1776-1777.
14. Berciano J, Mateo I, De PC, Polo JM, Combarros O. Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. J Neurol Sci 2002;194:75-82.
15. Ragno M, De MG, Cavalcanti F, et al. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia. Neurology 1997; 49:1617-1620.
16. Casari G, Marconi R. Spastic paraplegia 7. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [online]. Seattle, WA: University of Washington; 1993-. Published August 24, 2006 [updated December 23, 2010].
17. Brugman F, Scheffer H, Wokke JH, et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 2008;71:1500-1505.
18. Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology 2007;69:368-375.
19. McDermott CJ, Dayaratne RK, Tomkins J, et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 2001;56:467-471.
20. Gorospe JR. Alexander disease. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [online]. Seattle, WA: University of Washington; 1993-. Published November 15, 2002 [updated April 22, 2010].
21. Pareyson D, Fancellu R, Mariotti C, et al. Adult-onset Alexander disease: A series of eleven unrelated cases with review of the literature. Brain 2008;131:2321-2331.
22. Kaneko H, Hirose M, Katada S, et al. Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia. Mov Disord 2009;24:1393-1395.
23. Farina L, Pareyson D, Minati L, et al. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 2008;29:1190-1196.
24. Balbi P, Seri M, Ceccherini I, et al. Adult-onset Alexander disease: Report on a family. J Neurol 2008;255:24-30.
25. van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis. Neurology 2002;58: 702-708.
26. Paulson H. Spinocerebellar ataxia type 3. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [online]. Seattle, WA: University of Washington; 1993-. Published October 10, 1998 [updated March 17, 2011].
27. Wang YG, Du J, Wang JL, et al. Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic. J Neurol Sci 2009;285:121-124.
28. Onodera O, Idezuka J, Igarashi S, et al. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Ann Neurol 1998;43:288-296.
29. Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [online]. Seattle, WA: University of Washington; 1993-. Published July 16, 2003 [updated November 16, 2010].
30. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 1984;311:1649-1652.
31. Kruer MC, Paisan-Ruiz C, Boddaert N, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010;68: 611-618.
32. Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am J Hum Genet 2002;70:763-769.
33. Bouslam N, Bouhouche A, Benomar A, et al. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007;121:413-420.
34. Thiffault I, Rioux MF, Tetreault M, et al. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain 2006;129: 2332-2340.
35. Bayat V, Thiffault I, Jaiswal M, et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in Humans. PLoS Biol 2012;10:e1001288.
36. Crosby AH, Patel H, Chioza BA, et al. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet 2010;87:655-660.
37. Pierson TM, Adams D, Bonn F, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet 2011;7:e1002325.
38. Hedera P, Rainier S, Zhao XP, et al. Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder. Neurology 2002;58:411-416.
39. van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. Mol Genet Metab 2012;105:368-381.
40. Sedel F, Fontaine B, Saudubray JM, Lyon-Caen O. Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach. J Inherit Metab Dis 2007;30:855-864.
41. Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: A diagnostic approach. J Inherit Metab Dis 2008; 31:308-318.
42. Uziel G, Garavaglia B, Ciceri E, Moroni I, Rimoldi M. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatr Neurol 1995;13:333-335.
43. Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multisystem neurological disease is common in patients with OPA1 mutations. Brain 2010;133:771-786.