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Published on: June 17, 2013
Parkinsonian Syndromes in Motor Neuron Disease: A Clinical Study
Jacopo Pasquini1,2,3, Francesca Trogu1,2, Claudia Morelli1
1Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Background:
Parkinsonian syndromes may rarely occur in motor neuron disease (MND). However, previous studies are heterogeneous and mostly case reports or small case series. Therefore, we aimed to identify and characterize patients with concurrent parkinsonian syndromes extracted from a cohort of 1,042 consecutive cases diagnosed with MND at a tertiary Italian Center.
Methods:
Diagnosis of Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) was made according to current criteria. Clinical characterization included: upper and lower motor neuron disease features, typical and atypical parkinsonian features, oculomotor disorders, cognitive testing, MRI features, and, when available molecular neuroimaging. Genetic testing was carried out for major MND and PD-associated genes.
Results:
Parkinsonian syndromes were diagnosed in 18/1042 (1.7%) of MND patients (7 PD, 6 PSP, 3 CBS, 2 other parkinsonisms). Based on phenotype, patients could be categorized into amyotrophic lateral sclerosis (ALS)-parkinsonism and primary lateral sclerosis (PLS)-parkinsonism clusters. Across the whole database, parkinsonism was significantly more common in PLS than in other MND phenotypes (12.1 vs. 1.1%, p = 5.0 × 10-10). MND patients with parkinsonian features had older age of onset, higher frequency of oculomotor disorders, cognitive impairment, and family history of parkinsonism or dementia. Two patients showed pathogenic mutations in TARDBP and C9orf72 genes.
Conclusion:
Specific patterns in MND-parkinsonism were observed, with PLS patients often showing atypical parkinsonian syndromes and ALS patients more frequently showing typical PD. Systematic clinical, genetic, and neuropathologic characterization may provide a better understanding of these phenotypes.
Insights
Parkinsonian syndromes rarely occur in motor neuron disease (MND), particularly in primary lateral sclerosis (PLS). This study identified 1.7% of MND patients with parkinsonism, revealing distinct clinical and genetic patterns.
Area of Science:
- Neurology
- Neuroscience
- Genetics
Background:
- Parkinsonian syndromes are rarely observed in motor neuron disease (MND).
- Previous research on concurrent parkinsonism and MND is limited, often based on case reports or small case series.
- This study investigates a large cohort of MND patients to characterize co-occurring parkinsonian syndromes.
Purpose of the Study:
- To identify and characterize patients with concurrent parkinsonian syndromes within a large motor neuron disease cohort.
- To analyze the clinical, genetic, and neuroimaging features of MND patients with parkinsonism.
- To explore potential differences in parkinsonian syndromes based on MND phenotype.
Main Methods:
- Diagnosis of Parkinson's disease (PD), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS) followed current criteria.
- Comprehensive clinical characterization included motor neuron disease features, parkinsonian signs, oculomotor function, cognition, and MRI.
- Genetic testing for MND and PD-associated genes was performed.
Main Results:
- Parkinsonian syndromes were diagnosed in 1.7% of 1,042 MND patients (7 PD, 6 PSP, 3 CBS, 2 other parkinsonisms).
- Parkinsonism was significantly more prevalent in primary lateral sclerosis (PLS) than other MND phenotypes (12.1% vs. 1.1%).
- MND patients with parkinsonism exhibited older age of onset, more oculomotor disorders, cognitive impairment, and a family history of parkinsonism or dementia. Two patients had mutations in TARDBP and C9orf72.
Conclusions:
- Distinct patterns of MND-parkinsonism were observed, with PLS patients more frequently presenting atypical parkinsonism and ALS patients showing typical PD.
- Systematic clinical, genetic, and neuropathological characterization is crucial for understanding these complex phenotypes.
- Further research is warranted to elucidate the underlying mechanisms and improve diagnostic and therapeutic strategies for MND-parkinsonism.
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