Genomic coordinate 1:185,800,001
Here I present: “Progressive Supranuclear Palsy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PSP2) 進行性核上性麻痺。 icd10=G23.1
INTRODUCTION.
Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism, after Parkinson’s disease.
Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder caused by abnormal accumulation of tau protein in specific brain regions (brainstem, basal ganglia, frontal lobes). It leads to issues with posture, balance, speech, swallowing, and vertical eye movement, which is a hallmark feature.
CLINICAL FEATURES.
1. Early Signs.
Unexplained falls, especially backward.
Stiffness and slowness (parkinsonism) that does not respond well to levodopa.
Subtle changes in mood and personality.
Difficulty looking up or down (slowed vertical saccades).
2. Core Symptoms.
Supranuclear gaze palsy (eye movement limitation not due to muscle weakness).
Axial rigidity (trunk stiffness).
Dysarthria (slurred, slow speech ).
Dysphagia (trouble swallowing).
Cognitive slowing, executive dysfunction.
Frontal lobe behavioral changes (apathy, impulsivity).
Sleep disturbances.
Postural instability with frequent falls.
3. Distinguishing From Parkinson’s Disease.
Poor/no sustained response to levodopa.
Earlier and more severe falls.
Prominent vertical gaze palsy.
Stiff, extended neck (“retrocollis”) rather than forward flexion.
SUBTYPES of PSP
(These reflect which symptoms are most prominent.)
PSP-Richardson’s Syndrome (PSP-RS) – classic/most common; early falls + gaze palsy.
PSP-Parkinsonism (PSP-P) – more Parkinson-like; may respond slightly to levodopa.
PSP-Speech/Language Variant (PSP-SL) – nonfluent/agrammatic speech.
PSP-Corticobasal Syndrome (PSP-CBS) – asymmetric rigidity/dystonia, limb apraxia.
PSP-Frontal (PSP-F) – behavior and executive dysfunction prominent.
PSP-Postural Instability Gait Disorder (PSP-PI) – early gait/falls, mild eye symptoms.
There is evidence that progressivesupranuclearpalsy type-2 is caused by mutation in the PSP2 gene encoded on cytogenetic location 1q31.1 and genomic coordinate 1:185,800,001.
