Kufor-Rakeb syndrome

Kufor-Rakeb syndrome is a neurodegenerative disease, considered a form of Mendelian parkinsonism.

Epidemiology

This syndrome has an autosomal recessive pattern of inheritance and was first described in an Arab consanguineous kindred.

Clinical presentation

Kufor-Rakeb syndrome has a juvenile onset, with features of Parkinson's disease as well as additional features including spasticity, dementia and supranuclear gaze paralysis .

Pathology

The gene responsible has been named PARK9 and is located on chromosome 1p36 .

Radiographic features

Initially marked atrophy is confined to the globus pallidus. Later in the disease, more global atrophy develops .

See also

• neurodegenerative diseases
• Parkinson's disease

Siehe auch:

• Globus pallidus
• Morbus Parkinson
• neurodegenerative Erkrankung