Spinocerebellar ataxia type 14: Study of a family with an exon 5 mutation in the PRKCG gene

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 76, Issue 12, 2005, Pages 1720-1722

  Fahey, M C ^b   Knight, M A ^b   Shaw, J H ^a   Gardner, R J M ^a   Du Sart, D ^a   Lockhart, P J ^b   Delatycki, M B ^b   Gates, P C ^c   Storey, Elsdon ^a,d,e  

^a Genetic Health Services Victoria   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c Barwon Health ^*  (Australia)

^d ALFRED HOSPITAL   (Australia)

^e MONASH UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; PHENYLALANINE; PROTEIN KINASE C GAMMA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENOTYPE; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

ADULT; AUSTRALIA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PROTEIN KINASE C; SPINOCEREBELLAR ATAXIAS;

EID: 28144460707     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2004.044115     Document Type: Article

References (19)

1. Stevanin G, Bouslam N, Thobois S, et al. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 2004;55(1):97-104.
2. Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72(4):839-49.
3. Chen DH, Cimino PJ, Ranum L, et al. Prevalence of SCA14 and spectrum of PKC gamma mutations in a large panel of ataxia patients. Am J Hum Genet 2003;73(suppl):546.
4. Brkanac Z, Bylenok L, Fernandez M, et al. A new dominant Spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 2002;59(8):1291-5.
5. Yamashita I, Sasaki H, Yabe I, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000;48(2):156-63.
6. Yabe I, Sasaki H, Chen DH, et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003;60(12):1749-51.
7. van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61(12):1760-5.
8. Rivaud-Pechoux S, Durr A, Gaymard B, et al. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. Ann Neurol 1998;43(3):297-302.
9. Buttner N, Geschwind D, Jen JC, et al. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol 1998;55(10):1353-7.
10. Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997;42(6):933-50.
11. Knight MA, Gardner PJ, Bahlo M, et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 2004;127(Pt 5):1172-81.
12. Day JW, Schut LJ, Moseley ML, et al. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 2000;55(5):649-57.
13. Worth PF, Giunti P, Gardner-Thorpe C, et al. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet 1999;65(2):420-6.
14. 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.
15. Knight MA, Kennerson ML, Anney PJ, et al. Spinocerebellar ataxia type 15 (sca15) maps to 3p24. 2-3pter: exclusion of me ITPR1 gene, the human orthologue of an ataxic mouse mutant, Neurobiol Dis 2003;13(2):147-57.
16. Miller NR, Newman NJ, eds. Walsh and Hoyt's Clinical Neuroophthalmology, 5th ed. Baltimore: Lippincott Williams & Wilkins, 1998.
17. van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 2003;72(1):191-9.
18. Gundlfinger A, Kapfhammer JP, Kruse F, et al. Different regulation of Purkinje cell dendritic development in cerebellar slice cultures by protein kinase Calpha and -beta. J Neurobiol 2003;57(1):95-109.
19. Verbeek DS, Knight MA, Harmison GG, et al. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 2005;128(Pt 2):436-42.