Progressive Supranuclear Palsy Or Steele-Richardson-Olszewski Syndrome

Progressive supranuclear palsy is a neurodegenerative disease of as yet unknown etiology. Its manifestations include motor, cognitive and psychological alterations.

Progressive supranuclear palsy is a rare disease. It is a brain disorder that affects those who suffer from it at different levels (motor, cognitive and emotional). Among the different manifestations, difficulties in movement, lack of balance, speech problems or mood disturbances can be observed.

Its incidence is usually 3 to 6 per 100,000 people in a year. This makes it one of the least researched neuronal diseases. So there is a certain lack of knowledge about it. Its symptoms are known, but its etiology is not yet well defined. In this way, the treatment to be followed is not too specific either. Despite this, it is approached from different areas such as medical, psychological or physiotherapeutic.

Progressive supranuclear palsy, what does it consist of?

Authors such as Jiménez-Jiménez (2008) define it as a neurodegenerative disease in which an accumulation of neurofibrillary tangles occurs in neurons and glial cells. This accumulation takes place in specific areas of the brainstem and basal ganglia. In this way, there is a progressive decrease in these structures and the loss of their projections towards the frontal lobe.

The etiology of this disease is unknown, although some cases with a genetic basis have been documented. To date, in the absence of more research, it is not known what triggers this disease. Among the best known causes, is the genetic predisposition and possible environmental factors not yet defined.

Clinical picture

The damage caused by progressive supranuclear palsy affects at different levels causing different disorders. Ardeno, Bembibre and Triviño (2012) expose some of the consequences of this disease.

Motor disorders The gait disorder, postural instability and parkinsonism stand out.
Gaze disorders. Vertical gaze paralysis occurs, especially downward gaze. Eyelid alterations can also occur.

Cognitive and behavioral disorders. Presence of apathy, depression, social isolation, etc.
Pseudobulbar syndrome. Spasmodic episodes of laughing and crying, dysphagia, dysarthria, etc. can occur.

Clinical variants

In 1994, Lantos described three types or clinical variants of progressive supranuclear palsy. These variants depend on the area in which the neurofibrillary tangles accumulate.

In the frontal variant, cognitive and behavioral alterations predominate.
The classic variant is characterized by postural instability, by the presence of ophthalmoplegia and the pseudobulbar syndrome.
The parkinsonian variant presents a rigid-akinetic picture.

Diagnosis

The diagnosis of this disease is obtained with certainty after the post-mortem study. The diagnosis of the living patient is clinical and becomes quite complex.

The low incidence of progressive supranuclear palsy makes its diagnosis difficult due to the lack of research and confusion with other types of diseases. For this reason, a differential diagnosis is usually carried out with diseases such as Parkinson’s, multisystemic atrophy, corticobasal denegration, frontotemporal dementia or dementia with Lewy bodies.

Diagnostic methods are carried out through different studies using different instruments:

On the one hand, structural neuroimaging studies are carried out through magnetic resonance imaging (MRI).
Functional neuroimaging studies make use of single photon emission computed tomography (SPECT).
Finally, positron emission tomography (PET) also stands out as a tool for the detection of this disease.

According to the National Institute of Neurological Disorders and Stroke and the Society for Progressive Supranuclear Palsy, there are different diagnostic criteria for this disease.

Inclusion criteria

Possible progressive supranuclear palsy

Gradually progressive disease.
Age of onset equal to or less than 40 years.
Both vertical gaze or slow vertical jerks and postural instability can be seen.
There is no evidence of other diseases that can explain the above points.

Probable progressive supranuclear palsy

Gradually progressive disease.
Age of onset equal to or less than 40 years.

Vertical gaze paralysis.
Postural instability.
There is no evidence of other diseases that can explain the above points.

Support criteria

Akinesia or symmetrical rigidity predominantly proximal.
Cervical dystonia.
Lack of response to treatment with levodopa, or a poor and transient response.
Early dysarthria or dysphagia.
Early cognitive decline with at least two of the following signs: apathy, reduced verbal fluency, impaired abstract thinking, imitation behaviors, or signs of frontal liberation.

Evaluation

Due to the scarce presence of this disease in the population, there is no standard and concrete evaluation for it. For this reason, the evaluation is carried out through unique cases, adapting different tests, tests and questionnaires to each patient.

Arnedo, Bembibre and Triviño (2012), through a particular case, present the evaluated areas and the tools used.

Attention: Stroke Test, Stroke Count, A Test and Color Stroke Test.
Language : Boston vocabulary test, semantics and phonetics, interview and brief language protocol.
Memory : digit subtest (WAIS-III), spatial location subscale (WMS-III) and Rey’s complex figure copy test.
Executive functions : Matrices subtest (WAIS-III), Similarities subtest (WAIS-III), 5-digit test and Wisconsin card classification test.
Gnosias : environmental sounds, tactile object recognition and Superimposed figure test.
Visuoperceptive functions : Battery of tests of visual perception of objects and space.
Praxias : King’s figure copy test, cubes subtest (WAIS-III), simple transitive and intransitive gestures, sequence of movements and use of objects.

Processing speed : execution time in timed tests.
Psychopathological scales : neuropsychiatric inventory.
Functional scales : Barthel index and Lawton and Brody scale.

Treatment and conclusion

An effective and specific treatment for progressive supranuclear palsy is unknown. The only measures that are applied are palliative ones, so that the patient maintains an adequate quality of life. In the absence of treatment, the goal is to slow down the progression of the disease and promote the patient’s autonomy as much as possible.

The treatments that are usually applied range from visits to different specialists such as neurologists, psychologists, rehabilitators, etc. to pharmacological treatments such as levodopa, fluoxetine, amitriptyline or imipramine. And as for non-pharmacological measures, speech therapy, physiotherapy, cognitive stimulation or occupational therapy are mainly distinguished.

Without a doubt, research becomes a fundamental aspect to delve deeper into this currently unknown disease. In this way, its cause, evaluation and treatment can be investigated with greater precision.