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ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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Published on: July 29, 2007

Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Michael Benatar1, Joanne Wuu, Catalina Fernandez

  • 1Department of Neurology, University of Miami, Miami, FL, USA. mbenatar@miami.edu

Neurology
|May 3, 2013
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Summary

Genetic mutations can cause inclusion body myopathy, Paget disease, and frontotemporal dementia (IBMPFD), a condition that also affects motor neurons. A new term, multisystem proteinopathy (MSP), better describes this expanding spectrum of disease.

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Inclusion body myopathy, Paget disease, and frontotemporal dementia (IBMPFD) is a rare genetic disorder.
  • The clinical spectrum and genetic causes of IBMPFD are not fully understood.

Purpose of the Study:

  • To investigate the connection between IBMPFD and motor neuron disease (MND).
  • To characterize the clinical and genetic features of patients with IBMPFD.

Main Methods:

  • Clinical, genetic, and EMG assessments were performed on 17 patients from 8 IBMPFD families.
  • Genetic analysis identified mutations in VCP and hnRNPA2B1 genes.

Main Results:

  • Limb weakness was the most common symptom, with onset in adulthood.
  • Upper motor neuron dysfunction and cognitive impairment were observed in some patients.
  • EMG showed neurogenic, myopathic, or mixed abnormalities.

Conclusions:

  • The phenotypic spectrum of IBMPFD is broader than previously recognized, including MND.
  • The term multisystem proteinopathy (MSP) is proposed to encompass the diverse clinical features and underlying genetic defects.
  • Genetic defects in MSP may provide insights into the pathobiology of common neurodegenerative diseases like ALS and FTD.