Motor neuron involvement in multisystem proteinopathy: implications for ALS.

ABSTRACT:

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 no

SUBMITTER: Benatar M 

PROVIDER: S-EPMC3908355 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature