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Two new cases with the UBQLN2 gene mutation in Han Chinese.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2024

He Shuang, He Xin-Xin, Yang Hong-Qi, Zhang Jie-Wen, Chen Shuai

Abstract excerpt

Variations in the UBQLN2 gene are associated with a group of diseases with X-linked dominant inheritance and clinical phenotypes of amyotrophic lateral sclerosis (ALS) and/or frontal temporal lobe dementia (FTD). Cases with UBQLN2 variations have been rarely reported worldwide. The reported cases exhibit strong clinical heterogeneity. Here, we report two adult-onset cases with UBQLN2 variations in Han Chinese....

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PMID: 38943019
DOI: 10.1007/s10072-024-07674-7

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