Extending the clinicopathological spectrum of neurofilament inclusion disease

Keith Anthony Josephs, Hirotake Uchikado, Rodney D. McComb, Rifaat Bashir, Zbigniew K Wszolek, Jerry Swanson, Joseph Matsumoto, Gerry Shaw, Dennis W Dickson

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

We describe features of a patient that broadens the clinical and pathological spectrum of neurofilament inclusion disease (NFID). The patient was a 52-year-old man with a 5-6 year history of progressive, asymmetrical spastic weakness of the upper and lower extremities; L-DOPA-unresponsive parkinsonism; and SPECT evidence of asymmetrical frontoparietal and basal ganglia hypoperfusion. The brain had marked frontoparietal parasagittal cortical atrophy, including the motor cortex, with histopathological evidence of neurofilament- and α-internexin-immunoreactive neuronal inclusions. The corticospinal tract had degeneration, but there was minimal lower motor neuron pathology. There was also severe neuronal loss and gliosis in the posterolateral putamen and the substantia nigra, mimicking multiple system atrophy; however, glial cytoplasmic inclusions were not detected with α-synuclein immunohistochemistry. This case extends the clinical and pathological spectrum of NFID to include cases with predominant parkinsonian and pyramidal features.

Original languageEnglish (US)
Pages (from-to)427-432
Number of pages6
JournalActa Neuropathologica
Volume109
Issue number4
DOIs
StatePublished - Apr 2005

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Intermediate Filaments
Cytomegalovirus Infections
Synucleins
Multiple System Atrophy
Pyramidal Tracts
Gliosis
Muscle Spasticity
Putamen
Inclusion Bodies
Motor Cortex
Parkinsonian Disorders
Motor Neurons
Substantia Nigra
Basal Ganglia
Single-Photon Emission-Computed Tomography
Upper Extremity
Neuroglia
Atrophy
Lower Extremity
Immunohistochemistry

Keywords

  • α-Internexin
  • Motor neuron disease
  • Multiple system atrophy
  • Neurofilament inclusion disease
  • Striatonigral degeneration

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Extending the clinicopathological spectrum of neurofilament inclusion disease. / Josephs, Keith Anthony; Uchikado, Hirotake; McComb, Rodney D.; Bashir, Rifaat; Wszolek, Zbigniew K; Swanson, Jerry; Matsumoto, Joseph; Shaw, Gerry; Dickson, Dennis W.

In: Acta Neuropathologica, Vol. 109, No. 4, 04.2005, p. 427-432.

Research output: Contribution to journalArticle

Josephs, Keith Anthony ; Uchikado, Hirotake ; McComb, Rodney D. ; Bashir, Rifaat ; Wszolek, Zbigniew K ; Swanson, Jerry ; Matsumoto, Joseph ; Shaw, Gerry ; Dickson, Dennis W. / Extending the clinicopathological spectrum of neurofilament inclusion disease. In: Acta Neuropathologica. 2005 ; Vol. 109, No. 4. pp. 427-432.
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