Table 2.

Lysosomal storage disorder genes which have been genetically linked to Parkinson disease

Gene	Phenotype	Protein product	Pathway	Reference
ARSB	Maroteaux-Lamy syndrome	Arysulfatase B	Mucopolysaccharide metabolism	[145, 363]
ASAH1	Farber lipogranulomatosis	N-acylsphingosine amidohydrolase	Sphingolipid metabolism	[173, 280]
CTSD	Neuronal ceroid lipofuscinoses 10	Cathepsin D	Sphingolipid metabolism	[280, 315, 327]
GALC	Krabbe disease	Galactosylceramidase	Sphingolipid metabolism	[50, 292]
GBA	Gaucher disease	Glucocerebosidase	Sphingolipid metabolism	[313, 344]
GRNa	Neuronal ceroid lipofuscinoses 11	Progranulin	Unknown lysosomal function	[229, 319]
GUSB	Mucopolysaccharidosis VII	β-glucuronidase	Mucopolysaccharide metabolism	[229, 342]
MCOLN1	Mucolipidosis IV	Mucolipin-1	Mucolipid metabolism	[18, 55]
NAGLU	Sanfilippo syndrome B	α-N-acetylglucosminidase	Mucopolysaccharide metabolism	[365, 377]
NEU1	Mucolipidosis I (Sialidosis)	α-neuraminidase	Mucolipid metabolism	[33, 229]
NPC1/NPC2	Niemann-Pick disease type C	NPC intracellular cholesterol transporter 1/2	Cholesterol trafficking	[47, 171, 232]
SCARB2	Action myoclonus-renal failure syndrome	Lysosomal integral membrane protein 2	Lysosomal targeting of glucosylceramidase	[24, 81]
SLC17A5	Salla disease, infantile sialic acid storage disorder	Sialin	Mucolipid metabolism	[280, 350]
SMDP1	Niemann-Pick disease type A/B	Acid sphingomyelinase	Sphingolipid metabolism	[106, 195]

^aHeterozygous mutations cause autosomal dominant frontotemporal lobar degeneration with ubiquitin-positive inclusions