Rare diseases: Supranuclear palsy

Dr Raj Thakkar explains this rare neurodegenerative condition.

Photograph: iStock)
Photograph: iStock)

What is it?

Progressive supranuclear palsy (PSP)or Steele-Richardson-Olszewski syndrome is a rare neurodegenerative condition. It is considered a ‘Parkinson’s plus’ syndrome. The incidence varies across the medical literature, some sources quoting five per 100,000 in people over the age of 50.

Who is at risk?

PSP may be underdiagnosed and perhaps misdiagnosed as Alzheimer’s disease, other dementia subtypes, or Parkinson’s disease.

Age is a key risk factor and most cases are diagnosed in the seventh decade of life, although people over the age of 40 may be affected. The cause is unknown and a multi­factorial hypothesis has been postulated. Although both environmental and genetic factors have been implicated, PSP does not run in families. Studies have shown an excessive concentration of tau protein in the brains of patients with PSP compared with controls.

How does it manifest?

PSP is progressive, leading to death about seven years after the onset of symptoms. Typically, it presents
with balance disorder and falls, particularly backwards.

Neck stiffness is also an early feature. The rigidity and bradykinesia tend to be more central and symmetrical, unlike classical Parkinson’s disease, and tremor tends not to be a feature. Eye symptoms include vertical gaze palsy, diplopia, photo­phobia and blurred vision. Irritability, changes in mood and disinhibition may also be an early or presenting symptom.

The progressive nature of PSP leads to significant, life-changing symptoms. Mobility impairment may cause falls and difficulty in managing stairs. Eventually, patients may require walking aids or wheelchairs. Eye disease also contributes to the risk of falls and blinking disorder may cause corneal ulceration and dry eyes or periods of temporary blindness through prolonged lid closure.

Difficulty in swallowing occurs later in the natural history of PSP and may manifest with weight loss and aspiration. Aspiration pneumonia is the most common cause of death in these patients. In addition to swallowing problems, patients find it progressively more difficult to speak. Incontinence is also a late feature.

How is it managed?

PSP requires a multidisciplinary approach, also involving the family and perhaps solicitors in the context of advance directives. In addition to GP input, neurologists, gastroenterologists, ophthalmologists, respiratory physicians, physiotherapists, occupational therapists, speech and language therapists, specialist nurses, counsellors, palliative care teams and social workers may be involved.

  • Dr Thakkar is a GP in Wooburn Green, Buckinghamshire

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