Table 1.

Autophagy genes and neurodegeneration

Gene	Type of gene mutation	Species	Phenotype	Ref
Atg5, Atg7	Nervous system-specific knockout (KO)	Mouse	Axonal swelling and degeneration; progressive postnatal loss of neurons (pyramidal neurons in the cerebral cortex and hippocampus, Purkinje cells in the cerebellum); organismal lethality	19,20
Atg5, Atg7	Purkinje neuron-specific KO	Mouse	Axonal swelling and degeneration; progressive postnatal loss of Purkinje cells in the cerebellum and motor coordination decline; organismal lethality	21,120
Fip200	Nervous system-specific KO	Mouse	Purkinje cell degeneration; progressive cerebellar ataxia; organismal lethality	121
Ulk1/Ulk2	Nervous system-specific double KO	Mouse	Progressive loss of neurons (pyramidal neurons in the hippocampus CA1 region); elevated endoplasmic reticulum stress (activation of unfolded protein response pathway); organismal lethality	122
Endophilin A	Endophilin 1/2 double KO, Endophilin 1/3 double KO	Mouse	Progressive impairment in motor coordination, ataxia, neurodegeneration (motor cortex, hippocampus)	66
	Endophilin A KO	Drosophila	Loss of dopaminergic neurons	43
Synaptojanin 1	Point mutation (R258Q)	Drosophila	Impaired autophagosome maturation, neurodegeneration (dopaminergic neuron loss)	44
ATG5	Homozygous missense mutation	Human	Congenital ataxia; mental retardation; developmental delay	123
WDR45	de novo mutations	Human	Neurodegeneration with brain iron accumulation (NBIA); abnormal iron deposition in substantia nigra and globus pallidus; developmental delay; neurological deterioration (parkinsonism, dystonia, early onset dementia)	124–126