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Table 1 UBQLN2 mutations in ALS patients

From: Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia

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]
  1. n/a not applicable, NCI neuronal cytoplasmic inclusions
  2. a A488T was found in a sporadic case