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Motor neuron involvement in multisystem proteinopathy: Implications for ALS by Michael Benatar; Joanne Wuu; Catalina Fernandez; Conrad C. Weihl; Heather Katzen; Julie Steele; Bjorn Oskarsson; J. Paul Taylor is a Medicine article available to read on EtoBox.

What is Motor neuron involvement in multisystem proteinopathy: Implications for ALS about?

Objective: To explore the putative connection between inclusion body myopathy, Paget disease, frontotemporal dementia (IBMPFD) and motor neuron disease (MND). Methods: Clinical, genetic, and EMG characterization of 17 patients from 8 IBMPFD families. Results: Limb weakness was the most common clinical manifestation (present in 15 patients, median onset age 38 years, range 25-52), with unequivocal evidence of upper motor neuron dysfunction in 3. EMG, abnormal in all 17, was purely neurogenic in 4, purely myopathic in 6, and mixed neurogenic/myopathic in 7. Cognitive/behavioral impairment was detected in at least 8. Mutations in VCP (R155H, R159G, R155C) were identified in 6 families, and in hnRNPA2B1 (D290V) in another family. The genetic cause in the eighth family has not yet been identified. ## Conclusion: Mutations in at least 4 genes may cause IBMPFD, and its phenotypic spectrum extends beyond IBM, Paget disease, and frontotemporal dementia (FTD). Weakness, the most common and disabling manifestation, may be caused by muscle disease or MND. The acronym IBMPFD is, therefore, insufficient to describe disorders due to VCP mutations or other recently identified IBMPFD-associated gen

Who reads Motor neuron involvement in multisystem proteinopathy: Implications for ALS?

Author

Michael Benatar; Joanne Wuu; Catalina Fernandez; Conrad C. Weihl; Heather Katzen; Julie Steele; Bjorn Oskarsson; J. Paul Taylor

Publisher

Ovid Technologies (Wolters Kluwer Health)

Published

2013

Language

EN

Field

Medicine (Health Sciences)