Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

Journal of Neurology

Volumn 258, Issue 1, 2011, Pages 56-67

  H'mida Ben Brahim, D ^a,b   M'Zahem, A ^c   Assoum, M ^a,b   Bouhlal, Y ^d   Fattori, F ^e   Anheim, M ^a,b   Ali Pacha, L ^f   Ferrat, F ^g   Chaouch, M ^g   Lagier Tourenne, C ^a,b   Drouot, N ^a,b   Thibaut, C ^a,b   Benhassine, T ^h   Sifi, Y ^d   Stoppa Lyonnet, D ^i,j   N'Guyen, K ^k   Poujet, J ^k   Hamri, A ^c   Hentati, F ^d   Amouri, R ^d   Santorelli, F M ^e   Tazir, M ^f   Koenig, M ^a,b   more..

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c Centre Hospitalo Universitaire Dr Benbadis Constantine   (Algeria)

^d Institut National de Neurologie Tunisia   (Tunisia)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f CHU Mustapha   (Algeria)

^g Ben Aknoun Hospital   (Algeria)

^h Institut Pasteur d'Algerie   (Algeria)

ⁱ INSTITUT CURIE   (France)

^j UNIVERSITÉ PARIS DESCARTES   (France)

^k Hôpitaux Universitaires de Marseille   (France)

more..

Author keywords

Homozygosity mapping; Recessive ataxia; SNP microarrays

Indexed keywords

ALPHA FETOPROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHILD; CHROMOSOME 11Q; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECESSIVE GENE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGE OF ONSET; ATAXIA TELANGIECTASIA; CEREBELLAR ATAXIA; CHILD; CHROMOSOME MAPPING; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HEAT-SHOCK PROTEINS; HOMOZYGOTE; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; MUTATION; OCULOMOTOR NERVE DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINOCEREBELLAR DEGENERATIONS; YOUNG ADULT;

EID: 78751642158     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5682-5     Document Type: Article

References (28)

1. M Anheim M Fleury B Monga V Laugel D Chaigne G Rodier E Ginglinger C Boulay S Courtois N Drouot M Fritsch JP Delaunoy D Stoppa-Lyonnet C Tranchant M Koenig 2010 Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management Neurogenetics 11 1 12 1:STN:280:DC%2BC3c%2FivVGrsg%3D%3D 10.1007/s10048-009- 0196-y 19440741
2. Assoum M (2010) Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain 133:2439-2447
3. C Barbot P Coutinho R Chorao C Ferreira J Barros I Fineza K Dias J Monteiro A Guimaraes P Mendonca M do Ceu Moreira J Sequeiros 2001 Recessive ataxia with ocular apraxia: review of 22 Portuguese patients Arch Neurol 58 201 205 1:STN:280:DC%2BD3M7ntFWltw%3D%3D 10.1001/archneur.58.2.201 11176957
4. M Ben Hamida S Belal G Sirugo C Ben Hamida K Panayides P Ionannou J Beckmann JL Mandel F Hentati M Koenig, et al. 1993 Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families Neurology 43 2179 2183 1:STN:280:DyaK2c%2FltVGqug%3D%3D 8232925
5. Y Bouhlal G El-Euch-Fayeche R Amouri F Hentati 2005 Distinct phenotypes within autosomal recessive ataxias not linked to already known loci Acta Myol 24 155 161 1:CAS:528:DC%2BD28Xis1yitLg%3D 16550933
6. Y Bouhlal G El Euch-Fayeche F Hentati R Amouri 2009 A novel SACS gene mutation in a Tunisian family J Mol Neurosci 39 333 336 1:CAS:528: DC%2BD1MXht1Gju7vK 10.1007/s12031-009-9212-9 19529988
7. V Campuzano L Montermini MD Molto L Pianese M Cossee F Cavalcanti E Monros F Rodius F Duclos A Monticelli F Zara J Canizares H Koutnikova SI Bidichandani C Gellera A Brice P Trouillas G De Michele A Filla R De Frutos F Palau PI Patel S Di Donato JL Mandel S Cocozza M Koenig M Pandolfo 1996 Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science 271 1423 1427 1:CAS:528:DyaK28XhsFegtbk%3D 10.1126/science.271.5254.1423 8596916
8. C Criscuolo P Mancini V Menchise F Sacca G De Michele S Banfi A Filla 2005 Very late onset in ataxia oculomotor apraxia type I Ann Neurol 57 777 1:CAS:528:DC%2BD2MXkvFyktL0%3D 10.1002/ana.20463 15852392 (Pubitemid 40628873)
9. G De Michele G Coppola S Cocozza A Filla 2004 A pathogenetic classification of hereditary ataxias: is the time ripe? J Neurol 251 913 922 10.1007/s00415-004-0484-2 15316795
10. N Dupre JP Bouchard F Gros-Louis GA Rouleau 2007 Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia Med Sci (Paris) 23 261 262 (Pubitemid 46472649)
11. JC Engert P Berube J Mercier C Dore P Lepage B Ge JP Bouchard J Mathieu SB Melancon M Schalling ES Lander K Morgan TJ Hudson A Richter 2000 ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF Nat Genet 24 120 125 1:CAS:528:DC%2BD3cXhtFCgsb8%3D 10.1038/72769 10655055 (Pubitemid 30094710)
12. BL Fogel S Perlman 2007 Clinical features and molecular genetics of autosomal recessive cerebellar ataxias Lancet Neurol 6 245 257 1:CAS:528:DC%2BD2sXjt1KgsLg%3D 10.1016/S1474-4422(07)70054-6 17303531 (Pubitemid 46228080)
13. A Garcia C Criscuolo G de Michele J Berciano 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay Muscle Nerve 37 107 110 10.1002/mus.20878 17683082
14. F Gros-Louis N Dupre P Dion MA Fox S Laurent S Verreault JR Sanes JP Bouchard GA Rouleau 2007 Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia Nat Genet 39 80 85 1:CAS:528: DC%2BD28XhtlGktLvI 10.1038/ng1927 17159980 (Pubitemid 46026505)
15. C Lagier-Tourenne M Tazir LC Lopez CM Quinzii M Assoum N Drouot C Busso S Makri L Ali-Pacha T Benhassine M Anheim DR Lynch C Thibault F Plewniak L Bianchetti C Tranchant O Poch S DiMauro JL Mandel MH Barros M Hirano M Koenig 2008 ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency Am J Hum Genet 82 661 672 1:CAS:528:DC%2BD1cXksVGrtbs%3D 10.1016/j.ajhg.2007.12.024 18319074 (Pubitemid 351735958)
16. C Lagier-Tourenne L Tranebaerg D Chaigne M Gribaa H Dollfus G Silvestri C Betard JM Warter M Koenig 2003 Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31 Eur J Hum Genet 11 770 778 1:CAS:528:DC%2BD3sXnsF2msb8%3D 10.1038/sj.ejhg.5201068 14512967 (Pubitemid 37337060)
17. MC Moreira S Klur M Watanabe AH Nemeth I Le Ber JC Moniz C Tranchant P Aubourg M Tazir L Schols M Pandolfo JB Schulz J Pouget P Calvas M Shizuka-Ikeda M Shoji M Tanaka L Izatt CE Shaw A M'Zahem E Dunne P Bomont T Benhassine N Bouslam G Stevanin A Brice J Guimaraes P Mendonca C Barbot P Coutinho J Sequeiros A Durr JM Warter M Koenig 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Nat Genet 36 225 227 1:CAS:528:DC%2BD2cXhsFOns70%3D 10.1038/ng1303 14770181 (Pubitemid 38282744)
18. K Nikali A Suomalainen J Saharinen M Kuokkanen JN Spelbrink T Lonnqvist L Peltonen 2005 Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky Hum Mol Genet 14 2981 2990 1:CAS:528:DC%2BD2MXhtVyksLvN 10.1093/hmg/ddi328 16135556 (Pubitemid 41535463)
19. K Ouahchi M Arita H Kayden F Hentati M Ben Hamida R Sokol H Arai K Inoue JL Mandel M Koenig 1995 Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein Nat Genet 9 141 145 1:CAS:528:DyaK2MXjsFOmsLg%3D 10.1038/ng0295-141 7719340
20. Y Ouyang Y Takiyama K Sakoe H Shimazaki T Ogawa S Nagano Y Yamamoto I Nakano 2006 Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon Neurology 66 1103 1104 1:STN:280:DC%2BD283gtVSqsA%3D%3D 10.1212/01.wnl.0000204300.94261.ea 16606928 (Pubitemid 44044802)
21. K Savitsky S Sfez DA Tagle Y Ziv A Sartiel FS Collins Y Shiloh G Rotman 1995 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species Hum Mol Genet 4 2025 2032 1:CAS:528:DyaK2MXpt1Oqtb4%3D 10.1093/hmg/4.11.2025 8589678
22. T Stankovic AM Kidd A Sutcliffe GM McGuire P Robinson P Weber T Bedenham AR Bradwell DF Easton GG Lennox N Haites PJ Byrd AM Taylor 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer Am J Hum Genet 62 334 345 1:CAS:528:DyaK1cXhslGjsLs%3D 10.1086/301706 9463314 (Pubitemid 28110776)
23. GS Stewart RS Maser T Stankovic DA Bressan MI Kaplan NG Jaspers A Raams PJ Byrd JH Petrini AM Taylor 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder Cell 99 577 587 1:CAS:528:DC%2BD3cXitVKi 10.1016/S0092-8674(00)81547-0 10612394
24. C Stoetzel V Laurier EE Davis J Muller S Rix JL Badano CC Leitch N Salem E Chouery S Corbani N Jalk S Vicaire P Sarda C Hamel D Lacombe M Holder S Odent S Holder AS Brooks NH Elcioglu ED Silva B Rossillion S Sigaudy TJ de Ravel RA Lewis B Leheup A Verloes P Amati-Bonneau A Megarbane O Poch D Bonneau PL Beales JL Mandel N Katsanis H Dollfus 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Nat Genet 38 521 524 1:CAS:528:DC%2BD28XjvVGksbk%3D 10.1038/ng1771 16582908
25. C Stoetzel J Muller V Laurier EE Davis NA Zaghloul S Vicaire C Jacquelin F Plewniak CC Leitch P Sarda C Hamel TJ de Ravel RA Lewis E Friederich C Thibault JM Danse A Verloes D Bonneau N Katsanis O Poch JL Mandel H Dollfus 2007 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome Am J Hum Genet 80 1 11 1:CAS:528:DC%2BD2sXms1Cntg%3D%3D 10.1086/510256 17160889 (Pubitemid 46047645)
26. H Takashima CF Boerkoel J John GM Saifi MA Salih D Armstrong Y Mao FA Quiocho BB Roa M Nakagawa DW Stockton JR Lupski 2002 Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy Nat Genet 32 267 272 1:CAS:528:DC%2BD38XotlaisLs%3D 10.1038/ng987 12244316
27. AM Taylor PJ Byrd 2005 Molecular pathology of ataxia telangiectasia J Clin Pathol 58 1009 1015 1:CAS:528:DC%2BD2MXhtFKjtbbL 10.1136/jcp.2005.026062 16189143 (Pubitemid 41416047)
28. G Van Goethem JJ Martin B Dermaut A Lofgren A Wibail D Ververken P Tack I Dehaene M Van Zandijcke M Moonen C Ceuterick P De Jonghe C Van Broeckhoven 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia Neuromuscul Disord 13 133 142 10.1016/S0960-8966(02)00216-X 12565911 (Pubitemid 36140008)