Table 1.

Evidence for somatic mutations in neurodegenerative disease

Disease	N (cases)	Gene(s)	Type of mutation	Approximate level (%)	Approach	References
AD	1	PS1	SNV	14	PCR, ASOH, Sanger sequencing	[11]
	32	APP	CNV	[single-cell]	Single-cell qPCR, FISH	[21]
	72	APP, PS1, PS2, MAPT	CNV, SNV	≥ 10 (CNV), ≥ 1 (SNV)	Targeted deep sequencing, qPCR	[111]
PD/DLB	567	SNCA	SNV	≥ 5–10	PCR (HRM)	[102, 103]
Prion disease	1	PRNP	SNV	97	PCR, Sanger sequencing, qPCR	[3]

AD Alzheimer’s disease, APP amyloid precursor protein, ASOH allele-specific oligonucleotide hybridization, CNV copy-number variations, DLB dementia with Lewy bodies, FISH fluorescent in situ hybridization, HRM high resolution melt analysis, MAPT tau protein, PCR polymerase chain reaction, PD Parkinson’s disease, PRNP prion protein, PS1 presenilin 1, PS2 presenilin 2, qPCR quantitative PCR, SNCA alpha-synuclein, SNV single-nucleotide variant

Partially based on [70]