Conditions / Genetic
Kufor-Rakeb syndrome
info · Genetic
An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
Signs and symptoms
- Hypertonia
- Mild intellectual disability
- Bradykinesia
- Rigidity
- Brisk reflexes
- Dementia
- Tremor
- Babinski sign
- Supranuclear gaze palsy
- Palmomental reflex
Also known as: autosomal recessive Parkinson disease 9; autosomal recessive juvenile onset Parkinson disease 9