Spinocerebellar ataxia type 15

Cerebellum

Volumn 4, Issue 1, 2005, Pages 47-50

  Gardner, R J Mckinlay ^a,b,c   Knight, Melanie A ^b,c,h   Hara, Kenju ^d   Tsuji, Shoji ^e   Forrest, Susan M ^c,f   Storey, Elsdon ^a,g  

^a Genetic Health Services Victoria   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d Niigata University   (Japan)

^e UNIVERSITY OF TOKYO   (Japan)

^f WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^g MONASH UNIVERSITY   (Australia)

^h NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Cerebellar ataxia; SCA15

Indexed keywords

ARTICLE; AUSTRALIA; BRAIN ATROPHY; CHROMOSOME 3P; CHROMOSOME MAP; CLINICAL FEATURE; DISEASE COURSE; GAZE; GENE LOCUS; GENE MAPPING; HUMAN; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA TYPE 15; SPINOCEREBELLAR DEGENERATION; SYMPTOM; TREMOR;

CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 3; FAMILY HEALTH; HUMANS; LINKAGE (GENETICS); PEDIGREE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 17844375145     PISSN: 14734222     EISSN: None     Source Type: Journal    
DOI: 10.1080/14734220410019029     Document Type: Article

References (7)

1. Knight MA, Kennerson M, Nicholson GA, Gardner RJM, Storey E, Thomas PQ, Forrest SM. A new spinocerebellar ataxia, SCA15. Am J Hum Genet. 2001;69(Suppl):509.
2. Storey E, Gardner RJM, Knight MA, Kennerson ML, Tuck RR, Forrest SM, Nicholson GA. A new autosomal dominant pure cerebellar ataxia. Neurology. 2001;57:1913-15.
3. Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B. International Co-operative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci. 1997;145:205-11.
4. Hara K, Fukushima T, Suzuki T, Shimohata T, Oyake M, Ishiguro H, Hirota K, Miyashita A, Kuwano R, Kurisaki H, Yomono H, Goto J, Kanazawa I, Tsuji S. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology. 2004;62:648-51.
5. Chen DH, Cimino PJ, Ranum L, Yabe I, Sasaki H, Matsushita M, Bird TD, Raskind WH. Prevalence of SCA14 and spectrum of PKCy mutations in a large panel of ataxia patients. Am J Hum Genet. 2003;73(Suppl): 546.
6. Van De Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology. 2003;61:1760-5.
7. Knight MA, Kennerson ML, Anney RJ, Matsurra T, Nicholson GA, Salimi-Tari P, Gardner RJM, Storey E, Forrest SM. Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis. 2003;13:147-57.