Makindo Medical Notes

Related Subjects: Multiple System Atrophy (MSA) | Parkinson Plus syndromes | Parkinsonism | Idiopathic Parkinson disease | Progressive Supranuclear Palsy | Drug Induced Parkinson disease

Consider Progressive Supranuclear Palsy if a patient presents with Parkinsonism symptoms accompanied by early falls. Key features include the characteristic "Mona Lisa" stare and distinctive MRI findings described as "Mickey Mouse" (midbrain atrophy) and "Hummingbird" (sagittal view) appearances. Early symptoms often include difficulty looking downward, which can impair activities such as reading and navigating stairs.

About

• Progressive Supranuclear Palsy (PSP): A neurodegenerative disorder characterized by bradykinesia and rigidity, typical of Parkinsonism.
• It is classified among the atypical Parkinsonian syndromes and is considered a tauopathy.
• First described in 1963 by Steele, Richardson, and Olszewski.

Etiology

• Marked by the accumulation of tau-positive neurofibrillary tangles.
• Tangles predominantly affect the brainstem and basal ganglia.
• There is significant neuronal loss in the substantia nigra and notable involvement of the frontal cortex.

Clinical Presentation

• Typically affects individuals over the age of 50.
• Features a symmetrical, akinetic-rigid Parkinsonism with marked neck and axial rigidity.
• Frequent, unexplained falls (often backward) due to postural instability.
• Vertical gaze palsy, especially difficulty looking downward.
• Early saccadic slowing and a "rocket sign" (abrupt rising or sitting) may be observed.
• Patients may develop dysarthria and dysphagia.
• Preservation of doll's head eye movement, despite other abnormal eye signs.
• The characteristic "reptilian" stare (with an open mouth and delayed eye responses) can complicate diagnosis.
• Often associated with subcortical dementia, exhibiting prominent axial rigidity and an extensor posture.

Diagnostic Imaging

MRI findings: "Mickey Mouse" appearance of the midbrain and "Hummingbird" sign on sagittal images.

Investigations

• MRI: Shows midbrain atrophy (resembling "Mickey Mouse ears") and a "Hummingbird" sign on sagittal views; may also demonstrate frontal and temporal atrophy.
• Electrophysiological Studies: Anal sphincter EMG is often abnormal.
• Additional tests (e.g., neuropsychological evaluation) can help assess cognitive impairment.

Management Strategies

• Pharmacotherapy:
  • Levodopa generally offers a poor and transient response; alternatives such as amantadine may be considered.
  • Antidepressants can be used to manage associated mood disturbances (depression and anxiety).
• Symptomatic Treatments:
  • Botulinum toxin injections may help alleviate blepharospasm or dystonic posturing.
  • For severe dysphagia, PEG tube placement might be necessary.
• Supportive Care:
  • Multidisciplinary management including physical therapy, occupational therapy, and speech therapy is crucial.
  • Management of complications from immobility (e.g., pneumonia) is essential, as typical progression can lead to mortality within six years from onset.

Additional Resources

• Guideline for the Diagnosis and Management of Paget's Disease of Bone in Adults