SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

Archives of Neurology

Volumn 68, Issue 5, 2011, Pages 637-643

  Marelli, Cecilia ^a,b,c   Van De Leemput, Joyce ^d,e   Johnson, Janel O ^d,e   Tison, Francois ^f   Thauvin Robinet, Christel ^g   Picard, Fabienne ^h   Tranchant, Christine ⁱ   Hernandez, Dena G ^d,e   Huttin, Bernard ^j   Boulliat, Jacques ^k   Sangla, Iban ^l   Marescaux, Christian ⁱ   Brique, Serge ^p   Dollfus, Hélène ^m   Arepalli, Sampath ^d   Benatru, Isabelle ⁿ   Ollagnon, Elisabeth ^o   Forlani, Sylvie ^a   Hardy, John ^e   Stevanin, Giovanni ^a,b,c   Dürr, Alexandra ^a,b,c   Singleton, Andrew ^d   Brice, Alexis ^a,b,c   more..

^a SORBONNE UNIVERSITÉ   (France)

^b CNRS   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

ⁱ HÔPITAL CIVIL   (France)

^j Centre Hospitalier Jean Monnet   (France)

^k Department of Neurology   (France)

^l TIMONE HOSPITAL   (France)

^m INSERM   (France)

ⁿ HÔPITAL DU BOCAGE   (France)

^o CROIX ROUSSE HOSPITAL   (France)

^p NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; INOSITOL TRIPHOSPHATE RECEPTOR TYPE 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AGING; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; ETHNIC GROUP; FAMILY STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; HUMAN; LIMB TREMOR; MAJOR CLINICAL STUDY; MALE; MILD COGNITIVE IMPAIRMENT; NEUROPATHOLOGY; ONSET AGE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL SIGN; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TRINUCLEOTIDE REPEAT;

EID: 79955761514     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.81     Document Type: Article

References (28)

1. Stevanin G, Dürr A, Brice A. Spinocerebellar ataxias caused by polyglutamine expansions. Adv Exp Med Biol. 2002;516:47-77. (Pubitemid 36337736)
2. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3(5):291-304. (Pubitemid 38510200)
3. Stevanin G, Dürr A, Brice A. Clinical and genetic aspects of spinocerebellar ataxias with emphasis on polyglutamine expansions. In: Brice A, Pulst S, eds. Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias. New York, NY: Elsevier Inc; 2007:113-144. Blue Books of Neurology ; vol 31.
4. Dürr A, Stevanin G, Forlani S, et al. Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias [abstract]. Eur J Hum Genet. 2009;17(suppl 2):335.
5. Soong BW, Paulson HL. Spinocerebellar ataxias: an update. Curr Opin Neurol. 2007;20(4):438-446. (Pubitemid 47051992)
6. van de Leemput J, Chandran J, Knight MA, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007;3(6):e108.
7. Hara K, Shiga A, Nozaki H, et al. Total deletion and amissense mutation of ITPR1 in Japanese SCA15 families. Neurology. 2008;71(8):547-551.
8. Iwaki A, Kawano Y, Miura S, et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet. 2008;45(1):32-35. (Pubitemid 351158156)
9. Gardner RJ. "SCA16" is really SCA15 [comment]. JMed Genet. 2008;45(3):192.
10. Storey E, Gardner RJ, Knight MA, et al. A new autosomal dominant pure cerebellar ataxia. Neurology. 2001;57(10):1913-1915. (Pubitemid 33096709)
11. Miyoshi Y, Yamada T, Tanimura M, et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology. 2001;57(1):96-100. (Pubitemid 32634856)
12. Ganesamoorthy D, Bruno DL, Schoumans J, et al. Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem. 2009;55(7):1415- 1418.
13. Di Gregorio E, Orsi L, Godani M, et al. Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. Cerebellum. 2010;9(1):115-123.
14. Bandmann O, Singleton AB. Yet another spinocerebellar ataxia: the saga continues. Neurology. 2008;71(8):542-543.
15. Hara K, Fukushima T, Suzuki T, et al. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology. 2004;62(4):648-651. (Pubitemid 38252814)
16. Manto MU, Pandolfo M. Clinical signs of cerebellar disorders. In: Manto MU, Pandolfo M, eds. The Cerebellum and Its Disorders. New York, NY: Cambridge University Press; 2001:97-120.
17. Nakanishi S, Maeda N, Mikoshiba K. Immunohistochemical localization of an inositol 1,4,5-trisphosphate receptor, P400, in neural tissue: studies in developing and adult mouse brain. J Neurosci. 1991;11(7):2075-2086.
18. Sharp AH, Nucifora FC Jr, Blondel O, et al. Differential cellular expression of isoforms of inositol 1,4,5-triphosphate receptors in neurons and glia in brain. J Comp Neurol. 1999;406(2):207-220.
19. Matsumoto M, Nagata E. Type 1 inositol 1,4,5-trisphosphate receptor knockout mice: their phenotypes and their meaning in neuroscience and clinical practice. J Mol Med. 1999;77(5):406-411.
20. Matsumoto M, Nakagawa T, Inoue T, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature. 1996;379(6561):168-171.
21. Street VA, Bosma MM, Demas VP, et al. The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci. 1997;17(2):635-645.
22. Ogura H, Matsumoto M, Mikoshiba K. Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor. Behav Brain Res. 2001;122(2):215-219.
23. Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci. 2000;3(2):157-163. (Pubitemid 30126331)
24. Chen X, Tang TS, Tu H, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci. 2008;28(48):12713-12724.
25. Liu J, Tang TS, Tu H, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci. 2009;29(29):9148-9162.
26. Türkmen S, Guo G, Garshasbi M, et al. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009;5(5):e1000487.
27. Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling [published online ahead of print March 10, 2010]. Trends Neurosci. 2010;33:211-219.
28. Bezprozvanny I. Inositol 1,4,5-trisphosphate receptor, calcium signalling and Huntington's disease. Subcell Biochem. 2007;45:323-335.