Novel UBQLN2 mutations linked to Amyotrophic Lateral Sclerosis and atypical Hereditary Spastic Paraplegia phenotype through defective HSP70-mediated proteolysis

Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of Amyotrophic Lateral Sclerosis (ALS) and ALS linked to Frontotemporal Dementia (FTD). Here we report one known (c.1489C>T, p.Pro497Ser, P497S) and three novel (c.1481C>T, p.Pro494Leu, P494L; c.1498C>T, p.Pro500Ser, P500S and c.1516C>G, p.Pro506Ala, P506A) missense mutations in the PXX domain of UBQLN2 in familial motor neuron diseases including ALS and spastic paraplegia. One novel missense mutation (c.1462G>A, p.Ala488Thr, A488T) adjacent to this hot spot UBQLN2 domain was identified in a sporadic case of ALS.📍


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