Mutations in the gene DNAJC5 cause autosomal dominant kufs disease in a proportion of cases: Study of the parry family and 8 other families

PLoS ONE

Volumn 7, Issue 1, 2012, Pages

  Velinov, Milen ^a,b   Dolzhanskaya, Natalia ^a   Gonzalez, Michael ^c   Powell, Eric ^c   Konidari, Ioanna ^c   Hulme, William ^c   Staropoli, John F ^d,e   Xin, Winnie ^d   Wen, Guang Y ^a   Barone, Rosemary ^d   Coppel, Scott H ^d   Sims, Katherine ^d,e   Brown, W Ted ^a   Züchner, Stephan ^c  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT DISORDER KUFS DISEASE; AUTOSOMAL INHERITANCE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DNAJC5 GENE; EXOME; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; PHENOTYPE; PRPF6 GENE; RETINITIS PIGMENTOSA; SEIZURE; SEQUENCE ANALYSIS; CASE REPORT; DOMINANT GENE; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE;

CYSTEINE STRING PROTEIN; HEAT SHOCK PROTEIN 40; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; EXOME; FEMALE; GENES, DOMINANT; HSP40 HEAT-SHOCK PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; SEQUENCE ANALYSIS; YOUNG ADULT;

EID: 84855316474     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029729     Document Type: Article

References (9)

1. Hobert JA, Dawson G, (2006) Neuronal ceroid lipofuscinoses therapeutic strategies: Past, present and future. Biochem Biophys Acta 1762: 945-953.
2. Mole SE, Williams RE, (2010) Neuronal Ceroid Lipofuscinoses. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews [Internet] Seattle (WA): University of Washington, Seattle.
3. Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, et al. (2011) Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet 88: 566-573.
4. Noskova L, Stanecky V, Hartmannova H, Pristoupilova A, Baresova V, et al. (2011) Mutations in DNAJC5, encoding cysteine string protein alpha, cause autosomal-dominant adult onset Neuronal Ceroid Lipofuscinosis. Am J Hum Genet 89: 1-12.
5. Boehme DH, Cottrell SC, Leonberg SC, Zeman W, (1971) A dominant form of Neuronal Ceroid Lipofuscinosis. Brain 94: 745-760.
6. Sims KB, Andrew J, Cole MD, Sherman JC, Caruso PA, et al. (2011) Case 8-2011: A 32 year-old woman with seizures and cognitive decline. New Eng J Med 364: 1062-1074.
7. Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, et al. (2011) A missence mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet 88: 643-649.
8. Tobaken S, Thakur P, Fernandez-Chacon R, Sudhat T, Rettig J, et al. (2001) A trimeric protein complex functions as a synaptic chaperone machine. Neuron 31: 987-999.
9. Fernandez-Chacon R, Wolfel M, Nishimune H, Tabares L, Schmitz F, et al. (2004) The synaptic vesicle protein CSP-alpha prevents presynaptic degeneration. Neuron 42: 237-251.