Kufor-Rakeb syndrome (KRS) is a rare, inherited neurodegenerative disorder characterized by a complex constellation of neurological symptoms. As an autosomal recessive condition, it requires both parents to carry the mutated ATP13A2 gene for a child to inherit the disorder.

The hallmark of KRS is its atypical presentation of Parkinsonism, manifesting as tremors, rigidity, bradykinesia, and postural instability, often beginning in juvenile years. However, unlike typical Parkinson's disease, KRS is further complicated by the development of dementia, leading to progressive cognitive decline. This combination of motor and cognitive impairments significantly impacts an individual's quality of life. A distinctive feature of KRS is supranuclear gaze palsy, which hinders the ability to control voluntary eye movements, particularly upward gaze. Additional neurological manifestations can include spasticity, myoclonus, hallucinations, and difficulties with speech and swallowing, contributing to the multifaceted nature of the syndrome.

The underlying genetic cause, mutations in the ATP13A2 gene, disrupts cellular function, particularly within lysosomes, the cell's recycling centers, leading to the accumulation of toxic substances and neuronal damage. Given its rarity, research into KRS is ongoing, aiming to better understand its pathogenesis and develop potential therapeutic interventions. The progressive nature of the disease underscores the importance of early diagnosis and supportive care to manage symptoms and improve the lives of affected individuals.