Table 1.

UBQLN2 mutations in ALS patients

Forms of ALS	Age at onset (years)	Mutations	Domain	Clinical features	Neuropathology	Ref.
Familial	16 to 71	P497H P497S P506T P509S P525S	PXX	Earlier onset in male (33.9 ± 14.0) than female (47.3 ± 10.8), ALS, ALS/FTD and pure FTD	TDP-43/UBQLN2 NCI in spinal cord and hippocampus	[12]
Familial	30 to 76	T487I	PXX	Earlier onset in male (39.5 ± 10.4) than female (51.2 ± 14.3), pure ALS, bulbar and spinal onset	FUS/UBQLN2/TDP-43/ubiquitin NCI in the spinal cord	[64]
Sporadic	51 to 73	Q425R A282V A283T	Outside domains	ALS and pure FTD, spinal onset	n/a	[59]
Familial	30 to 57	P506S P533L M446R V538 L N439I	PXX	ALS and ALS/FTD, spinal and bulbar onset	n/a	[18]
Sporadic	46 to 59	S155 N P189T	S155 N: outside P189T: STI-1	Pure ALS, bulbar and spinal onset	n/a	[11]
Familial	4 to 63	P497L	PXX	Phenotype diversity: Choreoathetoid movements, dysarthria, spastic paralysis, ALS, FTD	UBQLN2/TDP-43 NCI in brain stem and hippocampus, striatal atrophy, cerebral atrophy	[16]
Familial and sporadica	27–62	P494L P500S P506A A488T	PXX A488T: outside	ALS and spastic paraplegia	n/a	[60]
Sporadic	62	M392 V	STI1	Pure ALS	n/a	[26]
Sporadic	14–16	M392I	STI1	Madras-type MND	n/a	[46]
Familial	52	p.Gly502_Ile504del	PXX	Bulbar ALS	n/a	[41]
Sporadic	30–77	S346C S400G P440L	Outside STI1	Pure FTD (S346C) and pure ALS	n/a	[13]

n/a not applicable, NCI neuronal cytoplasmic inclusions

^a A488T was found in a sporadic case