Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease

Alberto J. Espay, Salvatore Spina, David J. Houghton, Jill R. Murrell, Gabrielle M. De Courten-Myers, Bernardino Ghetti, Irene Litvan

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Objective: To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND). Methods: Subjects included two 70-year-old women presenting with rapidly progressive severe postural instability, axial-predominant parkinsonism, oculomotor dysfunction and frontal-predominant dementia with language impairment and pseudobulbar palsy. One had diffuse weakness without signs of lower motor neuron disease. Post-mortem evaluations included immunohistochemistry with antiphospho-TAR DNA-binding protein 43 (TDP-43) and genetic analysis of the TARDBP and PGRN genes. Results: Subjects died within 14 months from symptom onset. TDP-43-positive neuronal intracytoplasmic inclusions were prominent in the primary motor cortex, granule cell layer of the hippocampus, and several cranial and spinal cord nuclei. TDP-43 globular glial inclusions (GGI) were identified in one case. There were no mutations in PGRN or TARDBP genes. Conclusions: FTLD-MND due to TDP-43-proteinopathy should be considered in patients with rapidly progressive parkinsonism and dementia phenotype, especially when aphasia and/or weakness are also present.

Original languageEnglish
Pages (from-to)751-753
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume82
Issue number7
DOIs
StatePublished - Jul 2011

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Frontotemporal Lobar Degeneration
Motor Neuron Disease
DNA-Binding Proteins
Parkinsonian Disorders
Dementia
Pseudobulbar Palsy
Phenotype
Aphasia
Motor Cortex
Neuroglia
Genes
Hippocampus
Spinal Cord
Language
Immunohistochemistry
Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery

Cite this

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. / Espay, Alberto J.; Spina, Salvatore; Houghton, David J.; Murrell, Jill R.; De Courten-Myers, Gabrielle M.; Ghetti, Bernardino; Litvan, Irene.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 82, No. 7, 07.2011, p. 751-753.

Research output: Contribution to journalArticle

Espay, Alberto J. ; Spina, Salvatore ; Houghton, David J. ; Murrell, Jill R. ; De Courten-Myers, Gabrielle M. ; Ghetti, Bernardino ; Litvan, Irene. / Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. In: Journal of Neurology, Neurosurgery and Psychiatry. 2011 ; Vol. 82, No. 7. pp. 751-753.
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