| Disorder |
Main Symptoms |
DNA Repair Defect |
Mode of Inheritance |
| Xeroderma Pigmentosum |
Sensitivity to sunlight; slow neurodegeneration; Skin Cancer |
NER (7 variants) pol n |
Autosomal recessive |
| Cockayne’s Syndrome |
Sensitivity to sunlight; growth retardation; neurological impairment; progeria |
Defective NER and TCR |
Autosomal recessive |
| Trichothiodystrophy |
Sensitivity to sunlight; dystrophy; short brittle hair with low sulfur content; neurological defects |
Defective NER, Particularly of ultraviolet induced damage; closely related to ERCC2 and ERCC3 defects |
Autosomal recessive |
| Down syndrome |
Mental retardation; progeria |
Defective repair of oxidative DNA damage(trisomy of chromosome 21) |
No precise mode of inheritance |
| Nijmegen breakage syndrome |
Progeria; wheel chair dependency |
Defective DNA damage response and DSB repair |
Autosomal recessive |
| Alzheimer’s disease |
Memory loss; cognitive decline |
Increased oxidative stress and damage; defective repair of oxidative damage and DSB repair |
Autosomal dominant |
| Parkinson’s disease |
Tremor,bradykinosia,postural rigidity and postural instability |
Oxidative Stress and DNA damage; mutations in alfa-synuclein and parkin variants |
Autosomal dominant |
| Huntington’s disease |
Progressive chorea and dementia; severe neuronal loss in the striatum and cerebral cortex |
CAG repeat expansion in huntingtin(HD) gene and oxidative damage to DNA |
Autosomal dominant |
| Friedreich’s ataxia |
Limb ataxia; Sensory loss; skeletal deformities |
GAA expanded repeats in frataxin(FXN) gene |
Autosomal recessive |
| Myotonic dystrophy types 1 and 2 |
Muscle weakness; cataracts; testicular atrophy; cognitive decline |
CTG expansion(type 1);CCTG expansion(type 2) |
Autosomal dominant |
| Triple-A syndrome |
Adrenal insufficiency; achalasia; alacrima; neurodegeneration; autonomic dysfunction |
Mutation in AAAS gene, which encodes ALADIN protein |
Autosomal recessive |
| Amyotrophic lateral sclerosis |
Progressive degeneration of motor neurons; muscle weakness and atrophy, leading to fatality |
Defective Cu-Zn superoxide dismutase (SODC; SOD1); Oxidative stress; defective DNA repair (BER?) |
Autosomal recessive |
