Table 1.

Diseases associated with TDP-43 pathology

Disease	Predominant pathology	Co-occurrence of TDP-43 pathology	Associated genes
Classic ALS	TDP-43	n.a.	ALS2, SETX, TARDBP, VAPB, ANG, UBQLN2, OPTN, PFN1, UNC13a, NEK1, C21orf2, SIGMAR1, DCTN1, MATR3, VCP, hnRNPA1/A2b1, NIPA1, TBK1, ATXN2, UBQLN2, SQSTM1
Familial ALS-SOD1	SOD1	Rarely	SOD1
Familial ALS-FUS	FUS	No	FUS
ALS-FTLD, ALS-ci/bi	TDP-43	n.a.	TARDBP, CHMP2b, TBK1, UBQLN2, SQSTM1, DCTN1, UNC13a
Classic ALS, ALS-FTLD, FTLD	TDP-43	n.a.	C9orf72
MSP*	TDP-43	n.a.	VCP, hnRNPA1, hnRNPA2b1, SQSTM1
FTLD	TDP-43	n.a.	CHMP2b, GRN, SQSTM1, OPTN, TBK1, ATXN2
FTLD	FUS	No	–
FTLD	Tau	No	MAPT
Alzheimer’s disease	β-Amyloid, tau	Yes	APOE, APP, PSEN1, PSEN2
Dementia with Lewy bodies	α-Synuclein	Yes	SNCA, APP, PSEN1/PSEN2, MAPT, GBA, APOE
Parkinson disease	α-Synuclein	Yes	TARDBP, SNCA, Parkin, PINK1, DJ-1, LRRK2, ATP13A2, PLA2G6
Huntington disease	Huntingtin protein	yes	Huntingtin
LATE/CARTS	TDP-43, HS	n.a.	GRN, TMEM106B, ABCC9, KCNMB2, APOE
CTE	Tau	Yes	–
Perry disease	TDP-43	n.a.	DCTN1
FOSMN	TDP-43	n.a.	SOD1, SQSTM1, VCP, CHCHD10
sIBM	TDP-43	n.a.	–
PSP	Tau	Yes	MAPT, STX6, EIF2AK3
CBD	Tau	Yes	MAPT
AGD	Tau	Yes	–

*Multiple system proteinopathy-A familial disorder in which patients present with ALS, FTLD, inclusion body myositis, Paget’s disease of the bone or combinations of these phenotypes.

ALS, amyotrophic lateral sclerosis; bi, behavioural impairment; CARTS, cerebral age-related TDP-43 with sclerosis; ci, cognitive impairment; CTE, chronic traumatic encephalopathy; FOSMN, facial onset sensory and motor neuronopathy; FTLD, frontotemporal lobar degeneration; HS, hippocampal sclerosis; LATE, limbic-predominant age-related TDP-43 encephalopathy; n.a., not applicable; PPA, primary progressive aphasia; sIBM, sporadic inclusion body myositis; TDP-43, TAR DNA-binding protein 43.