Progressive supranuclear palsy - Richardson syndrome (PSP-RS), also known as classic PSP or Steele-Richardson-Olszewski syndrome, is the most common phenotypic variant of progressive supranuclear palsy, accounting for approximately 50-55% of all PSP cases. It is characterized by early postural instability, vertical supranuclear gaze palsy, and progressive akinesia[1]. [1]
| Gene | Variant | Effect | [2]
|------|---------|--------| [3]
| MAPT | H1 haplotype | Increased risk | [4]
| MAPT | p.P301T | Penetrant PSP | [5]
| STX6 | rs646776 | Modest risk | [6]
| EIF2AK3 | rs7447 | Modest risk | [7]
PSP-RS is a 4-repeat (4R) tauopathy characterized by[4]: [8]
| Feature | Frequency | [9]
|---------|-----------|
| Dysarthria | 80-90% |
| Dysphagia | 60-70% |
| Cognitive impairment | 50-60% |
| Frontal signs | 40-50% |
| Urinary incontinence | 30-40% |
| Stage | Timeline | Features |
|---|---|---|
| Prodromal | 1-2 years | Subtle balance issues, reduced blink rate |
| Early | 1-3 years | Classic triad emerges, independent ambulation |
| Middle | 3-5 years | Frequent falls, speech/swallowing difficulty |
| Late | 5-7 years | Wheelchair dependence, severe dysphagia |
| End-stage | >7 years | Bedridden, severe cognitive impairment |
Definite PSP:
Probable PSP-RS:
Possible PSP-RS:
| Test | Finding |
|---|---|
| MRI brain | Midbrain atrophy ("hummingbird sign"), superior cerebellar peduncle atrophy[7] |
| FDG-PET | Hypometabolism in frontal cortex, brainstem, basal ganglia[7] |
| DaTscan | Presynaptic dopamine transporter deficiency[7] |
| CSF biomarkers | Elevated tau, reduced Aβ42 (less specific)[7] |
| Factor | Impact |
|---|---|
| Early falls | Worse prognosis |
| Early dysphagia | Worse prognosis |
| Early cognitive impairment | Worse prognosis |
| Younger age at onset | Slightly better |
| Tremor at onset | Variable |
Recent research on Progressive Supranuclear Palsy - Richardson Syndrome includes:
Williams DR, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain. 2005. 2005. ↩︎
Litvan I, et al. Accuracy of clinical criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome). Neurology. 1996. 1996. ↩︎
Höglinger GU, et al. Identification of multiple Parkinson's disease variants for targeted trials. Mov Disord. 2017. 2017. ↩︎
Dickson DW, et al. Neuropathology of variants of progressive supranuclear palsy. Mov Disord. 2010. 2010. ↩︎
Steele JC, et al. Progressive supranuclear palsy. A heterogeneous degeneration of the basal ganglia. Brain. 1964. 1964. ↩︎
Höglinger GU, et al. Clinical diagnosis of progressive supranuclear palsy: Movement Disorder Society criteria. Mov Disord. 2017. 2017. ↩︎
Niccolini F, et al. Neuroimaging in progressive supranuclear palsy. J Neurol. 2015. 2015. ↩︎
Vale TC, et al. Progressive supranuclear palsy: treatment approaches and challenges. Arq Neuropsiquiatr. 2016. 2016. ↩︎
Krismer F, et al. Tau-targeted therapies for PSP: Current state and future directions. Neurotherapeutics. 2022. 2022. ↩︎