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
Table 1: Various Neurological Disorder with a link to defective DNA repair