About NBIA

A group of rare, genetically determined neurological disorders

General description

NBIA encompasses rare, genetically determined neurological disorders characterized by abnormal iron accumulation in the basal ganglia. These structures regulate movement — their damage leads to progressive movement disorders.

Common symptoms

  • Developmental delays in early childhood
  • Balance and coordination problems
  • Speech difficulties
  • Progressive muscle dystonia
  • Parkinsonian symptoms (tremor, rigidity)
  • Involuntary movements
  • Psychiatric complications and cognitive decline
Diagnosis: MRI (iron deposits), genetic testing and clinical examination. NBIA disorders are rare and often diagnosed after a long diagnostic odyssey.

PKAN

The most common NBIA form, caused by mutations in PANK2. Begins in childhood with progressive generalized dystonia and a characteristic "Eye-of-the-Tiger" sign on MRI.

BPAN

Caused by mutations in WDR45 (X chromosome). Primarily affects girls: developmental delay in childhood, then parkinsonism in adulthood. Considered the most common NBIA subtype.

MPAN

Caused by mutations in C19orf12 (identified 2011). Begins with gait disturbances, followed by spastic paraplegia, dystonia and neuropsychiatric features.

PLAN / INAD

Caused by mutations in PLA2G6. Infantile form (INAD) begins between 6 months and 3 years with rapid regression.

FAHN

Caused by mutations in FA2H. Begins in childhood or adolescence with spastic tetraparesis and cerebellar ataxia, slow progression.

Kufor-Rakeb Syndrome

Caused by mutations in ATP13A2. Juvenile-onset parkinsonism, supranuclear gaze palsy and progressive dementia.