Neurofilament inclusion body disease NIBD

Diagnosis:

A combination of clinical and MRI
Clinical:

  • Age <65yo
  • Parkinsonism: Rigidity, bradykinesia, falls
  • Dopamine resistant
  • Cortical features: Hand clumsiness, apraxia, language dysfunction, Mute,

MRI:

  • Frontal atrophy, caudate atrophy, temporal atrophy,

Pathology:

  • Gross: frontal atrophy, caudate atrophy, Nigral pallor,
  • Superficial Spongiosis in frontal lobes, Purkinje cell loss
  • Intraneuronal inclusions (cytoplasmic) in frontal lobes, see below

Immunohistochemsitry:

  • Intraneuronal Inclusions (cytoplasmic & intranuclear) are neurofilament positive, ubiquitin positive.
  • Inclusions are negative for alpha synuclein, tau, amyloid, prion protein

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