ANO10 c.1150-1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

Journal of Neurology

Volumn 259, Issue 5, 2012, Pages 906-911

  Chamova, Teodora ^a   Florez, Laura ^b   Guergueltcheva, Velina ^a   Raycheva, Margarita ^a   Kaneva, Radka ^c   Lochmü ller, Hanns ^d   Kalaydjieva, Luba ^a,b,e   Tournev, Ivailo ^f  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e PATHWEST LABORATORY MEDICINE   (Australia)

^f NEW BULGARIAN UNIVERSITY   (Bulgaria)

Author keywords

ANO10; Autosomal recessive cerebellar ataxia; Gypsy founder mutations; Phenotypic features

Indexed keywords

ANACTOMIN 10 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BULGARIA; CEREBELLAR ATAXIA; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ELECTROMYOGRAM; FAMILY; FEMALE; GAIT DISORDER; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GIPSY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; ITALY; MALE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SERBIA;

ADULT; BRAIN; BULGARIA; CEREBELLAR ATAXIA; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; GYPSIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL STATUS SCHEDULE; NEUROLOGIC EXAMINATION; PHENOTYPE; SEQUENCE DELETION; STATISTICS, NONPARAMETRIC;

EID: 84862579825     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6276-6     Document Type: Article

References (13)

1. Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N (2010) Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 87(6):813-819. doi:10.1016/j.ajhg.2010.10.015 (S0002-9297(10) 00531-8 [pii])
2. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1(8334):1151-1155 (S0140-6736(83)92879-9 [pii]) (Pubitemid 13084682)
3. Finsterer J (2009) Ataxias with autosomal, X-chromosomal or maternal inheritance. Can J Neurol Sci 36(4):409-428
4. H'Mida-Ben Brahim D, M'Zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M (2011) Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. J Neurol 258(1):56-67. doi:10.1007/s00415-010-5682-5
5. Kalaydjieva L, Morar B, Chaix R, Tang H (2005) A newly discovered founder population: The Roma/Gypsies. Bioessays 27(10):1084-1094. doi:10.1002/bies. 20287 (Pubitemid 41608965)
6. Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L (2007) Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. Brain 130(Pt 4):1050-1061. doi: 10.1093/brain/awm026 (awm026 [pii]) (Pubitemid 47355602)
7. Gresham D, Morar B, Underhill PA, Passarino G, Lin AA, Wise C, Angelicheva D, Calafell F, Oefner PJ, Shen P, Tournev I, de Pablo R, Kucinskas V, Perez-Lezaun A, Marushiakova E, Popov V, Kalaydjieva L (2001) Origins and divergence of the Roma (gypsies). Am J Hum Genet 69(6):1314-1331. doi:10.1086/ 324681 (S0002-9297(07)61261-0 [pii]) (Pubitemid 33124213)
8. Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L (2004) Mutation history of the roma/gypsies. Am J Hum Genet 75(4):596-609. doi:10.1086/ 424759 (S0002-9297(07)62711-6 [pii]) (Pubitemid 39244774)
9. Alusi SH, Worthington J, Glickman S, Bain PG (2001) A study of tremor in multiple sclerosis. Brain 124(Pt 4):720-730 (Pubitemid 32303831)
10. Lezak M (1995) Neuropsychological assessment. Oxford University Press, New York
11. Bellebaum C, Daum I (2007) Cerebellar involvement in executive control. Cerebellum 6(3):184-192. doi:10.1080/14734220 601169707 (771178752 [pii]) (Pubitemid 47360067)
12. Laforce R Jr, Buteau JP, Bouchard JP, Rouleau GA, Bouchard RW, Dupre N (2010) Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome. Cerebellum 9(3): 443-453. doi:10.1007/s12311-010-0184-7
13. Middleton FA, Strick PL (1994) Anatomical evidence for cerebellar and basal ganglia involvement in higher cognitive function. Science 266(5184):458-461 (Pubitemid 24348969)