Table 1.
Examples of novel genes recently found to be associated with neurodegenerative diseases by the use of exome sequencing
| Disease | Gene | Mutation(s) | Effect on disease | Refs. |
|---|---|---|---|---|
| Parkinson's disease | VPS35 | Heterozygous p.Asp620Asn | Causative | (4,5) |
| Alzheimer's disease | TREM2 | Heterozygous p.R47H | Increased risk (OR > 3) | (6,7) |
| Alzheimer's disease | SORL1 | Heterozygous missense and nonsense | Potentially causative | (8) |
| Hereditary diffuse leukoencephalopathy with spheroids | CSF1R | Heterozygous missense, insertions and deletions all affecting the protein tyrosine kinase domain | Causative | (9) |
| Amyotrophic lateral sclerosis | PFN1 | Heterozygous missense | Causative | (10) |
| Autosomal-recessive cerebellar ataxia with spasticity | GBA2 | Homozygous missense and nonsense | Causative | (11) |