Hereditary ataxias: Overview

Genetics in Medicine

Volumn 15, Issue 9, 2013, Pages 673-683

  Jayadev, Suman ^a   Bird, Thomas D ^a,b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

Author keywords

ataxia; cerebellum; neurogenetics

Indexed keywords

ALPHA TOCOPHEROL DEFICIENCY; ANTICIPATION; APRAXIA; ATAXIA TELANGIECTASIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CATARACT; CEREBELLAR ATAXIA; CEREBROTENDINOUS XANTHOMATOSIS; CHILDHOOD; DIFFERENTIAL DIAGNOSIS; DISEASE DURATION; DYSARTHRIA; FRIEDREICH ATAXIA; GENETIC SCREENING; HEARING IMPAIRMENT; HEREDITARY ATAXIA; HUMAN; MARINESCO SJOGREN SYNDROME; MISSENSE MUTATION; MITOCHONDRIAL GENE; MOLECULAR GENETICS; MORPHOLOGICAL TRAIT; NEUROIMAGING; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE REPEAT; ONSET AGE; OPHTHALMOPLEGIA; POLYNEUROPATHY; REFSUM DISEASE; RETINITIS PIGMENTOSA; REVIEW; X LINKED SIDEROBLASTIC ANEMIA;

ATAXIA TELANGIECTASIA;

ADULT; AGE OF ONSET; CHILD; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC COUNSELING; GENETIC TESTING; HUMANS; PHENOTYPE; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84883874201     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.28     Document Type: Review

References (80)

1. Finsterer J. Mitochondrial ataxias. Can J Neurol Sci 2009;36:543-553.
2. Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol 2009;29:227-237.
3. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010;9:885-894.
4. Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997;42:924-932. (Pubitemid 28008424)
5. Tezenas du Montcel S, Charles P, Goizet C, et al. Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. Arch Neurol 2012;69:500-508.
6. Kerber KA, Jen JC, Perlman S, Baloh RW. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations. J Neurol Sci 2005;238:41-45. (Pubitemid 41560952)
7. Kraft S, Furtado S, Ranawaya R, et al. Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic. Can J Neurol Sci 2005;32:450-458. (Pubitemid 41788903)
8. Maschke M, Oehlert G, Xie TD, et al. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord 2005;20:1405-1412. (Pubitemid 43072647)
9. Schmitz-Hübsch T, Fimmers R, Rakowicz M, et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology 2010;74:678-684.
10. Ross OA, Rutherford NJ, Baker M, et al. Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 2011;20:3207-3212.
11. Van Damme P, Veldink JH, van Blitterswijk M, et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011;76:2066-2072.
12. Mantuano E, Romano S, Veneziano L, et al. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. J Neurol Sci 2010;291:30-36.
13. Brkanac Z, Spencer D, Shendure J, et al. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet 2009;84:692-697.
14. Brkanac Z, Fernandez M, Matsushita M, et al. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet 2002;114:450-457. (Pubitemid 34525245)
15. Melberg A, Dahl N, Hetta J, et al. Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Neurology 1999;53:2190-2192.
16. Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet 2006;43:527-530. (Pubitemid 43927329)
17. Coutinho P, Cruz VT, Tuna A, Silva SE, Guimarães J. Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia. Arch Neurol 2006;63:553-555.
18. Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384. (Pubitemid 29159573)
19. Ikeda Y, Daughters RS, Ranum LPW. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum 2008;7:150-158.
20. Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10-A review. Parkinsonism Relat Disord 2011;17:655-661.
21. La Spada AR. Trinucleotide repeat instability: genetic features and molecular mechanisms. Brain Pathol 1997;7:943-963. (Pubitemid 27346736)
22. 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. (Pubitemid 34211547)
23. Silveira I, Miranda C, Guimarães L, et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002;59:623-629. (Pubitemid 34289967)
24. Watanabe H, Tanaka F, Matsumoto M, et al. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin Genet 1998;53:13-19. (Pubitemid 28116115)
25. Kim JY, Park SS, Joo SI, Kim JM, Jeon BS. Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7. Mol Cells 2001;12:336-341. (Pubitemid 33666014)
26. Matsumura R, Futamura N, Ando N, Ueno S. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurol Scand 2003;107:38-41. (Pubitemid 36177329)
27. Moseley ML, Benzow KA, Schut LJ, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998;51:1666-1671. (Pubitemid 28565250)
28. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009;67:1143-1156.
29. Metz G, Coppard N, Cooper JM, et al. Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database. Brain 2013;136(Pt 1):259-268.
30. Di Donato I, Bianchi S, Federico A. Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci 2010;31:511-515.
31. Hentati F, El-Euch G, Bouhlal Y, Amouri R. Ataxia with vitamin E deficiency and abetalipoproteinemia. Handb Clin Neurol 2012;103:295-305.
32. Bomar JM, Benke PJ, Slattery EL, et al. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet 2003;35:264-269. (Pubitemid 37363181)
33. Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. Adv Exp Med Biol 2010;685:21-33.
34. Le Ber I, Moreira MC, Rivaud-Péchoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003;126(Pt 12):2761-2772. (Pubitemid 37463094)
35. Onodera O. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology 2006;26:361-367. (Pubitemid 44086841)
36. Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009;132(Pt 10):2688-2698.
37. Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. Neurology 2006;66:1580-1581. (Pubitemid 43958562)
38. 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 2005;14:2981-2990. (Pubitemid 41535463)
39. Anttonen AK, Mahjneh I, Hämäläinen RH, et al. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 2005;37:1309-1311. (Pubitemid 41722182)
40. Horvers M, Anttonen AK, Lehesjoki AE, et al. Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype. Eur J Paediatr Neurol 2013;17:199-203.
41. Winterthun S, Ferrari G, He L, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005;64:1204-1208.
42. Van Goethem G, Luoma P, Rantamäki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-1257. (Pubitemid 39350026)
43. Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord 2011;17:418-422.
44. Mrissa N, Belal S, Hamida CB, et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 2000;54:1408-1414. (Pubitemid 30210457)
45. Pulst SM, Filla A. Ataxias on the march from Quebec to Tunisia. Neurology 2000;54:1400-1401. (Pubitemid 30210454)
46. Wanders RJA, Waterham HR, Leroy BP. Refsum disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (online resource). Copyright University of Washington: Seattle, Washington. 1997-2012. http://www.ncbi. nlm.nih.gov/books/NBK1353. Accessed 11 October 2012.
47. Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, et al. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism. Am J Hum Genet 2010;87:410-417.
48. Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003;60:1206-1208. (Pubitemid 36418793)
49. Montero R, Pineda M, Aracil A, et al. Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. Cerebellum 2007;6:118-122. (Pubitemid 46788994)
50. 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.
51. Walton C, Interthal H, Hirano R, Salih MA, Takashima H, Boerkoel CF. Spinocerebellar ataxia with axonal neuropathy. Adv Exp Med Biol 2010;685:75-83.
52. Gironi M, Lamperti C, Nemni R, et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 2004;62:818-820. (Pubitemid 38298968)
53. Swartz BE, Burmeister M, Somers JT, Rottach KG, Bespalova IN, Leigh RJ. A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. Ann N Y Acad Sci 2002;956:441-444. (Pubitemid 34457638)
54. Tranebjaerg L, Teslovich TM, Jones M, et al. Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum Genet 2003;113:293-295. (Pubitemid 36992290)
55. Assoum M, Salih MA, Drouot N, et al. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain 2010;133(Pt 8):2439-2447.
56. Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005;77:477-483. (Pubitemid 41192653)
57. Gros-Louis F, Dupré N, Dion P, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007;39:80-85. (Pubitemid 46026505)
58. Dupré N, Gros-Louis F, Chrestian N, et al. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 2007;62:93-98. (Pubitemid 47235284)
59. Dixon-Salazar T, Silhavy JL, Marsh SE, et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 2004;75:979-987. (Pubitemid 39532068)
60. Parisi M, Glass I. Joubert syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (online resource). Copyright University of Washington: Seattle, Washington. 2003-2012. http://www.ncbi.nlm.nih.gov/books/ NBK1325. Accessed 31 October 2012.
61. Sellick GS, Barker KT, Stolte-Dijkstra I, et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 2004;36:1301-1305. (Pubitemid 39577939)
62. Sparks SE, Krasnewich DM. Congenital Disorders of Glycosylation. Overview In: GeneReviews at GeneTests: Medical Genetics Information Resource (online resource). Copyright University of Washington: Seattle, Washington. 2005-2012. http://www.ncbi.nlm.nih.gov/books/NBK1332. Accessed 31 October 2012.
63. Renbaum P, Kellerman E, Jaron R, et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 2009;85:281-289.
64. Cassandrini D, Biancheri R, Tessa A, et al. Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology 2010;75:1459-1464.
65. Doi H, Yoshida K, Yasuda T, et al. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 2011;89:320-327.
66. D'Hooghe M, Selleslag D, Mortier G, et al. X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. Eur J Paediatr Neurol 2012;16:730-735.
67. Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-30, quiz 2140.
68. Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med 2009;57:830-836.
69. Da Pozzo P, Cardaioli E, Malfatti E, et al. A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet 2009;17:1092-1096.
70. Pfeffer G, Blakely EL, Alston CL, et al. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. J Neurol Neurosurg Psychiatr 2012;83:883-886.
71. Gupta A, Jankovic J. Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. Parkinsonism Relat Disord 2009;15:621-626.
72. Gasser T, Finsterer J, Baets J, et al.; EFNS. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010;17: 179-188.
73. Fujigasaki H, Tardieu S, Camuzat A, et al. Spinocerebellar ataxia type 10 in the French population. Ann Neurol 2002;51:408-409. (Pubitemid 34206302)
74. Abele M, Bürk K, Schöls L, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002;125(Pt 5):961-968. (Pubitemid 34464608)
75. Fogel BL, Lee JY, Lane J, et al. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord 2012;27:442-446.
76. Tsuji S, Onodera O, Goto J, Nishizawa M; Study Group on Ataxic Diseases. Sporadic ataxias in Japan-a population-based epidemiological study. Cerebellum. 2008;7:189-1897.
77. Goizet C, Lesca G, Dürr A; French Group for Presymptomatic Testing in Neurogenetic Disorders. Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. Neurology 2002;59: 1330-1336. (Pubitemid 35285982)
78. Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol 2012;259:284-291.
79. Underwood BR, Rubinsztein DC. Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies. Cerebellum 2008;7:215-221.
80. Seyhan AA. RNAi: a potential new class of therapeutic for human genetic disease. Hum Genet 2011;130:583-605.