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Nationwide survey of patients with multisystem proteinopathy in Japan
Satoshi Yamashita1,2, Yuji Takahashi3, Jun Hashimoto4
1Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Objective:
Multisystem proteinopathy (MSP) is an inherited disorder in which protein aggregates with TAR DNA-binding protein of 43 kDa form in multiple organs. Mutations in VCP, HNRNPA2B1, HNRNPA1, SQSTM1, MATR3, and ANXA11 are causative for MSP. This study aimed to conduct a nationwide epidemiological survey based on the diagnostic criteria established by the Japan MSP study group.
Methods:
We conducted a nationwide epidemiological survey by administering primary and secondary questionnaires among 6235 specialists of the Japanese Society of Neurology.
Results:
In the primary survey, 47 patients with MSP were identified. In the secondary survey of 27 patients, inclusion body myopathy was the most common initial symptom (74.1%), followed by motor neuron disease (11.1%), frontotemporal dementia (FTD, 7.4%), and Paget's disease of bone (PDB, 7.4%), with no cases of parkinsonism. Inclusion body myopathy occurred most frequently during the entire course of the disease (81.5%), followed by motor neuron disease (25.9%), PDB (18.5%), FTD (14.8%), and parkinsonism (3.7%). Laboratory findings showed a high frequency of elevated serum creatine kinase levels and abnormalities on needle electromyography, muscle histology, brain magnetic resonance imaging, and perfusion single-photon emission computed tomography.
Interpretation:
The low frequency of FTD and PDB may suggest that FTD and PDB may be widely underdiagnosed and undertreated in clinical practice.
Insights
Multisystem proteinopathy (MSP) is a rare inherited disorder. This survey identified 47 patients, with inclusion body myopathy being the most common symptom, suggesting potential underdiagnosis of FTD and PDB.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Multisystem proteinopathy (MSP) is a rare inherited disorder characterized by protein aggregates involving TAR DNA-binding protein of 43 kDa in multiple organs.
- Causative gene mutations include VCP, HNRNPA2B1, HNRNPA1, SQSTM1, MATR3, and ANXA11.
- Diagnostic criteria were established by the Japan MSP study group.
Purpose of the Study:
- To conduct a nationwide epidemiological survey of Multisystem proteinopathy (MSP) in Japan.
- To establish the prevalence and clinical characteristics of MSP based on established diagnostic criteria.
Main Methods:
- A nationwide epidemiological survey was performed.
- Primary and secondary questionnaires were administered to 6235 specialists from the Japanese Society of Neurology.
- Data from identified patients were analyzed.
Main Results:
- The primary survey identified 47 patients with MSP.
- In a secondary survey of 27 patients, inclusion body myopathy was the most frequent initial symptom (74.1%).
- Other common manifestations included motor neuron disease (11.1%), frontotemporal dementia (FTD, 7.4%), and Paget's disease of bone (PDB, 7.4%). Parkinsonism was not observed initially.
Conclusions:
- Inclusion body myopathy is the most prevalent clinical feature throughout the disease course (81.5%).
- The observed low frequencies of FTD and PDB suggest these conditions may be significantly underdiagnosed and undertreated in clinical practice.
- Further research and clinical awareness are needed for early detection and management of MSP, particularly FTD and PDB components.
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