Yet another spinocerebellar ataxia: The saga continues

Neurology

Volumn 71, Issue 8, 2008, Pages 542-543

  Bandmann, O ^a,c   Singleton, A B ^b  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; CARRIER PROTEINS AND BINDING PROTEINS; CYTOSKELETON PROTEIN; FIBROBLAST GROWTH FACTOR 14; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; INOSITOL TRISPHOSPHATE; PEPTIDES AND PROTEINS; PHOSPHOTRANSFERASE; POLYGLUTAMINE; PROTEIN KINASE C GAMMA; SPECTRIN; SPECTRIN BETA III; SPINOCEREBELLAR ATAXIA 10 PROTEIN; SPINOCEREBELLAR ATAXIA 11 PROTEIN; SPINOCEREBELLAR ATAXIA 15 PROTEIN; SPINOCEREBELLAR ATAXIA 2 PROTEIN; SPINOCEREBELLAR ATAXIA 27 PROTEIN; SPINOCEREBELLAR ATAXIA 5 PROTEIN; SPINOCEREBELLAR ATAXIA 6 PROTEIN; TAU TUBULIN KINASE; TUBULIN; UNCLASSIFIED DRUG; ITPR1 PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN; SCA15 PROTEIN, HUMAN; SULFATASE; SUMF1 PROTEIN, HUMAN;

CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; EDITORIAL; EXON; FAMILY HISTORY; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SPINOCEREBELLAR DEGENERATION; TREMOR; ANIMAL; CLASSIFICATION; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE DETECTION; MOUSE; MUTATION; NOMENCLATURE; NOTE;

ANIMALS; DISEASE PROGRESSION; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE DETECTION; HUMANS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; MICE; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; SEQUENCE DELETION; SPINOCEREBELLAR ATAXIAS; SULFATASES; TERMINOLOGY AS TOPIC; TREMOR;

EID: 54749089718     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000323932.90720.55     Document Type: Editorial

References (10)

1. Paulson H. Yet another spinocerebellar ataxia: will it ever end? Lancet Neurol 2002;1:471.
2. Soong BW, Paulson HL. Spinocerebellar ataxias: an update. Curr Opin Neurol 2007;20:438-446.
3. Houlden H, Johnson J, Gardner-Thorpe C, et al. Mutations in TTBK2, encoding a kinase implicated in tau phos-phorylation, segregate with spinocerebellar ataxia type 11. Nat Genet 2007;39:1434-1436.
4. 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;3:1076-1082.
5. Hara K, Shiga A, Nozaki H, et al. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology 2008;71:547-551.
6. Storey E, Gardner RJM, Knight MA, et al. A new autoso-mal dominant pure cerebellar ataxia. Neurology 2001;57: 1913-1915.
7. Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E. Spinocerebellar ataxia type 15. Cerebellum 2005; 4:47-50.
8. Knight MA, Kennerson ML, Anney RJ, et al. Spinocere-bellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human homologue of an ataxic mouse mutant. Neurobiol Dis 2003;13:147-157.
9. Iwaki A, Kawano Y, Miura, et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet 2008;45:32-35.
10. Gardner RJM. "SCA16" is really SCA15. J Med Genet 2008;45:192.