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ATAXIA: DNA REPAIR DEFECTS

Ataxia Telangectasia: ATM; 11q22
Ataxia Telangectasia-like 1 (ATLD1): MRE11; 11q21
AT-like 2 (ATLD2): PCNA; 20p12
Ataxia with neuropathy: TDP1; 14q32
Cockayne Syndrome
  A: ERCC8; 5q12
  B: ERCC6; 10q11
  CS: ERCC1; 19q13
Xeroderma Pigmentosum

From Dr. A Kornberg
Ataxia Telangectasia




Ataxia Telangectasia
  AT Mutant (ATM) gene ; Chromosome 11q22.3; Recessive

Xeroderma Pigmentosum
  Multiple genotypes; Recessive

Cockayne Syndrome A
  Excision-repair cross complementing rodent DNA repair deficiency Complementation group 8 (ERCC8) ; Chromosome 5q12.1; Recessive

Cockayne Syndrome B
  Excision-repair cross complementing rodent DNA repair deficiency Complementation group 6 (ERCC6; CSB) ; Chromosome 10q11.23; Recessive

Cockayne Syndrome
  Excision-repair cross complementing rodent DNA repair deficiency Complementation group 1 (ERCC1) ; Chromosome 19q13.32; Recessive

Ataxia-telangiectasia-like disorder 1 (ATLD1)
  Meiotic recombination 11, S. Cerevisiae, homolog of, A (MRE11) ; Chromosome 11q21; Recessive


Ataxia-telangiectasia-like disorder 2 (ATLD2)
  Proliferating cell nuclear antigen (PCNA) ; Chromosome 20p13-p12; Recessive

Spinocerebellar ataxia with axonal neuropathy (SCAN1) 1
  Tyrosyl-DNA phosphodiesterase 1 (TDP1) ; Chromosome 14q32.11; Recessive
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References
1. Nature Genet 2002; Online September 2002
2. Nature Genet 2006; Online July 2006
3. Neurology 2006;67:346–349
4. Neurology 2009; Online July

11/12/2015