Siblings with xeroderma pigmentosum group A showing mild cutaneous and various neurological manifestations

Clinical Neurology

Volumn 46, Issue 2, 2006, Pages 134-139

  Kuru, Satoshi ^a   Yasuma, Midori ^a   Sakai, Motoko ^a   Konagaya, Masaaki ^a   Moriwaki, Shinichi ^b  

^a SUZUKA NATIONAL HOSPITAL   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Compound heterozygote; Nucleotide excision repair; Various neurological manifestations; Xeroderma pigmentosum group A

Indexed keywords

CYSTEINE; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CEREBELLAR ATAXIA; COMPUTER ASSISTED TOMOGRAPHY; DYSARTHRIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; HUMAN; INTRON; MALE; MENTAL DETERIORATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; SENSORY DYSFUNCTION; SIBLING; SKIN CANCER; SKIN DISEASE; SKIN PIGMENTATION; SPASTICITY; SUNLIGHT; SURAL NERVE; UNSCHEDULED DNA SYNTHESIS; URINARY DYSFUNCTION; VOCAL CORD PARALYSIS; WALKING DIFFICULTY; XERODERMA PIGMENTOSUM;

ATROPHY; BRAIN; CENTRAL NERVOUS SYSTEM DISEASES; DNA REPAIR; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEUROLOGIC EXAMINATION; SIBLINGS; SKIN DISEASES; TOMOGRAPHY, X-RAY COMPUTED; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP A PROTEIN;

EID: 33646027572     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Cleaver JE: Xeroderma pigmentosum: a human disease in which an initial stage of DNA repair is defective. Proc Natl Acad Sci USA 1969; 63: 428-435
2. Mimaki T, Itoh N, Abe J, et al: Neurological manifestations in xeroderma pigmentosum. Ann Neurol 1986; 20: 70-75
3. Tanaka K, Miura N, Satokata I, et al: Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature 1990; 348: 73-76
4. Mimaki T, Tanaka K, Okada Y, et al: Allelic heterogeneity in group A xeroderma pigmentosum. Acta Neurol Scand 1992; 85: 327-330
5. Kondoh M, Ueda M, Ichihashi M: Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients. Br J Dermatol 1995; 133: 579-585
6. Moriwaki S, Kraemer KH: Xeroderma Pigmentosum-bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 2001; 17: 47-54
7. Robbins JH, Brumback RA, Mendiones M, et al: Neurological disease in Xeroderma pigmentosum. Brain 1991; 114: 1335-1361
8. Sato K, Watatani M, Ikenaga M, et al: Sensitivity to UV radiation of fibroblasts from a Japanese group A xeroderma pigmentosum with mild neurological abnormalities. Br J Dermatol 1987; 116: 101-108
9. Mimaki T, Nitta M, Saijo M, et al: Truncated XPA protein detected in atypical group A xeroderma pigmentosum. Acta Paediatr 1996; 85: 511-513
10. Kuraoka I, Bender C, Romieu A, et al: Removal of oxygen-free-radical induced 5′, 8-purine cyclodeoxynucleoside from DNA by the nucleotide excision-repair pathway in human cells. Proc Natl Acad Sci USA 2000; 97: 3832-3837
11. Brooks PJ, Wise DS, Berry DA, et al: The oxidative DNA lesion 8,5′-(S)-cyclo-2′-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells. J Biol Chem 2000; 275: 22355-22362
12. Le page F, Kwoh EE, Avrutskaya A, et al: Transcription-coupled repair of 9-oxoguanine: Requirement for XPG, TFIIH, and CSB and implication for Cockayne syndrome. Cell 2000; 101: 159-171
13. Nishigori C, Moriwaki S, Takebe H, et al: Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 1994; 130: 191-197
14. Maeda T, Sato K, Minami H, et al: Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient. Br J Dermatol 1994; 131: 566-570