Pallido-luysio-nigral atrophy revealed by rapidly progressive hemidystonia: A clinical, radiologic, functional, and neuropathologic study

John Nutt, Eric S. Lea, Laura Van Houten, Robert Schuff, Gary J. Sexton

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Pallido-luysio-nigral atrophy (PLNA) is a rare neurodegenerative disease in which the clinical and radiologic correlates have not yet been clearly established. A 62-year-old man insidiously developed dystonic postures, choreoathetoid movements, slowness, and stiffness, which initially affected the right hand and foot and progressively spread to the entire right side. T2-weighted magnetic resonance imaging showed increased signal intensity in both left and right medial pallida and in the left substantia nigra. Tests using HMPAO-SPECT and FDG-PET demonstrated left cortical hyperperfusion and hypermetabolism, whereas the left lenticular nucleus was slightly hypometabolic. At age 65, abnormal movements and postures involved all four limbs and the axis causing major gait disturbances, and facial and bulbar muscles atrophied resulting in dysarthria, dysphagia, and impaired breathing. Diffuse amyotrophy and fasciculations also appeared. Death occurred at age 66, 4 years after onset. At autopsy, severe bilateral neuronal loss and gliosis restricted to the pallidum, the subthalamic nucleus, the substantia nigra, and the hypoglossal nucleus were noted, accounting for the diagnosis of PLNA with lower motor neuron involvement. Progressive hemidystonia with adult onset represents an unusual clinical presentation for this disorder. Moreover, this observation indicates that a diagnosis of PLNA should be considered for specific magnetic resonance imaging, SPECT, and/or PET data, and suggests that in PLNA, pallidal dysfunction might play a key role in the dystonic presentation.

Original languageEnglish (US)
Pages (from-to)947-953
Number of pages7
JournalMovement Disorders
Volume15
Issue number5
DOIs
StatePublished - 2000

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Substantia Nigra
Atrophy
Single-Photon Emission-Computed Tomography
Posture
Magnetic Resonance Imaging
Facial Muscles
Fasciculation
Corpus Striatum
Subthalamic Nucleus
Dysarthria
Globus Pallidus
Gliosis
Dyskinesias
Motor Neurons
Deglutition Disorders
Rare Diseases
Gait
Neurodegenerative Diseases
Foot
Autopsy

Keywords

  • Brain metabolism
  • Hemidystonia
  • Pallidal degeneration
  • Pallido-luysio-nigral atrophy
  • Thalamocortical perfusion

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Pallido-luysio-nigral atrophy revealed by rapidly progressive hemidystonia : A clinical, radiologic, functional, and neuropathologic study. / Nutt, John; Lea, Eric S.; Van Houten, Laura; Schuff, Robert; Sexton, Gary J.

In: Movement Disorders, Vol. 15, No. 5, 2000, p. 947-953.

Research output: Contribution to journalArticle

Nutt, John ; Lea, Eric S. ; Van Houten, Laura ; Schuff, Robert ; Sexton, Gary J. / Pallido-luysio-nigral atrophy revealed by rapidly progressive hemidystonia : A clinical, radiologic, functional, and neuropathologic study. In: Movement Disorders. 2000 ; Vol. 15, No. 5. pp. 947-953.
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