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Updated: Jul 30, 2025
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Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS
Published on: March 17, 2012
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ALS-plus related clinical and genetic study from China
Cheng Chang1,2,3, Qianqian Zhao1, Pan Liu1
1Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Rd, Changsha, Hunan, People's Republic of China.
Summary
Amyotrophic lateral sclerosis (ALS) plus syndromes and cognitive impairment are common in China. ALS-plus patients differ clinically and genetically from pure ALS, with cognitive impairment linked to more ALS-plus symptoms.
Area of Science:
- Neurology
- Neurodegenerative Diseases
- Genetics
Background:
- Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder.
- Extramotor features, termed ALS-plus syndromes, and cognitive impairment are increasingly recognized in ALS patients.
- Clinical and genetic data on ALS-plus syndromes in China are limited.
Purpose of the Study:
- To investigate the frequency and characteristics of ALS-plus syndromes and cognitive impairment in a Chinese ALS cohort.
- To compare clinical and genetic features between ALS-plus and pure ALS groups.
- To explore the relationship between cognitive impairment and ALS-plus syndromes.
Main Methods:
- A cohort of 1015 ALS patients was classified based on extramotor symptoms and cognitive function.
- Clinical manifestations, demographic characteristics, and genetic data were analyzed.
- Genetic screening for rare damaging variants (RDVs) was performed on 847 patients.
Main Results:
- 16.75% of patients had ALS-plus syndrome; 49.5% had cognitive impairment.
- ALS-plus patients exhibited lower ALSFRS-R scores, longer diagnostic delays, and longer survival times compared to the pure ALS group.
- RDVs were less frequent in ALS-plus patients (P=0.042), and cognitive impairment was associated with more ALS-plus symptoms (P=0.001).
Conclusions:
- ALS-plus syndromes are prevalent in China and distinct from pure ALS in clinical and genetic aspects.
- Cognitive impairment in ALS is linked to a higher prevalence of ALS-plus symptoms.
- Findings support the concept of ALS as a spectrum of diseases with varied mechanisms.
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