101. NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient
- Author
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Kang Zhang, Jianhong Chen, Jiao Yin, Xiao Yang, Jian Li, Kamal Kishor Yadav, and Yan Lu
- Subjects
China ,business.industry ,Amyotrophic Lateral Sclerosis ,Muscle weakness ,Bioinformatics ,medicine.disease ,03 medical and health sciences ,NIMA-Related Kinase 1 ,Progranulins ,0302 clinical medicine ,Neurology ,Respiratory failure ,Frontotemporal Dementia ,Mutation ,Mutation (genetic algorithm) ,Humans ,Medicine ,Neurology (clinical) ,Frontotemporal Lobar Degeneration ,medicine.symptom ,Amyotrophic lateral sclerosis ,business ,030217 neurology & neurosurgery - Abstract
We describe a sporadic amyotrophic lateral sclerosis (ALS) patient who presented rapid progress of muscle weakness and died of respiratory failure one and a half years after onset. Genetic analysis revealed a novel ALS-causing gene NEK1 nonsense mutation p.K1210* and a known pathogenic frontotemporal lobar degeneration (FTD)-causing gene GRN mutation p.C139R. It is rare for ALS patients to carry two different pathogenic mutations simultaneously. The individual only had typically motor neuron dysfunction without any related cognitive symptoms. GRN p.C139R mutation is linked to various clinical phenotypes that include FTD and Alzheimer's disease (AD). The case carrying two different gene mutations expands our understanding of ALS genetics.
- Published
- 2020