No formal diagnostic criteria for beta-propeller protein-associated neurodegeneration (BPAN) have been published

Clinical Findings

Seizures characterized by the following:

  • Features

    • Onset in early childhood

    • Development of multiple seizure types

    • Seizures worse in early childhood, lessening with age

  • Types

    • Generalized (absence, tonic, atonic, tonic-clonic and myoclonic)

    • Focal seizures with impaired consciousness

    • Epileptic spasms

  • Syndromes

    • West syndrome

    • Lennox Gastaut syndrome

    • Early-onset epilepsy with intellectual disability

Global developmental disability / intellectual disability (with minimal or absent expressive language) that is relatively stable in childhood, followed by progressive loss of cognitive function beginning in adolescence or early adulthood

Progressive parkinsonism and dystonia, beginning in adolescence or early adulthood

Abnormal behaviors that overlap with Rett syndrome, including stereotypic hand movements, bruxism when awake, and abnormal sleep patterns

During adolescence and early adulthood (mean age 25 years; range 15-37 years) some of the hallmark childhood features (e.g., seizures) resolve or become less prominent, while cognitive decline and progressive parkinsonism and dystonia emerge as characteristic findings [Hayflick et al 2013Nishioka et al 2015].

“Babies and children with BPAN tend to be slow to reach developmental milestones, such as crawling, walking and talking,” says Dr Papandreou. “They can also have epilepsy and sleep problems.”

Sadly, the children’s condition deteriorates significantly as they get older. Teenagers and young people with BPAN develop abnormal muscle tone, along with symptoms of Parkinson’s disease and dementia.

“Unfortunately, BPAN is a progressive, life-limiting disorder,” says Dr Papandreou. “Sooner or later, children lose skills they’ve previously acquired and their quality of life worsens. They invariably need increasing levels of support in all aspects of everyday life.”

“There’s no cure for BPAN, so current approaches to treatment focus on alleviating symptoms, adds Dr Papandreou. “Parents I’ve met understandably feel devastated about their child’s condition. However, they’re also keen to explore new avenues and participate in research projects, hoping to find answers for their loved ones and for others, which I find truly inspiring.”

A MRI (magnetic resonance imaging) has been an effective diagnostic tool for patients who have evidence of brain iron accumulation in the brain, however BPAN is confirmed through genetic testing of the WDR45 gene.


Symptoms of BPAN typically start to appear in early childhood.


  • Pervasive Developmental Disorders including:

    • Gross and Fine Motor Delays

    • Coordination & Balance Problems

    • Attention & Concentration Problems
      Learning Problems

    • Speech/Communication Delays: Expressive language is significantly affected and kids may develop few to no words
    • Social and Behavioral Issues, sometimes associated with Autism

  • Seizure Disorders:

    • Some children may have multiple seizure types first appearing infancy or later in life and may develop into seizure disorders similar to West Syndrome and Lennox Gestault Syndrome

  • Abnormal Sleep Patterns (Disordered Sleep)


  • Bruxism (Teeth Grinding)

  • Ophthalmologic - Retinal and Optic Nerve Disease

  • Orthopedic Dysfunction (Scoliosis)

  • Osteopenia and Osteoporosis

  • Autonomic Dysfuntion Including Body Temperature Regulation

  • Hypontonia or Muscle Rigidity

  • Oral-Motor Feeding Problems

  • Gastrointestinal/Digestive Issues

  • Nociception - Impaired Perception of Pain

  • Psychiatric - Anxiety, Depression, Autism, and Behavioral Issues

  • Individuals with BPAN can also have some symptoms that are also shared with individuals with Rett Syndrome:
    • Stereotypes (repetitive, rhythmic motions)

    • Hand-wringing

    • Biting and mouthing of hands

    • Rett Breathing Patterns including breath holding, hyperventilation and hypoventilation


Advances in genetic technologies have accelerated gene discovery as well as identification of the now expanding BPAN phenotype. Symptoms vary based upon individual patient, however most scientists agree that that disease course is broken into two phases, Phase I typically appearing in early childhood (by age 1) and Phase II, typically appearing in late adolescence or early adulthood.


 The materials and other information provided by this website are for educational, communication and information purposes only and are not intended to replace or constitute medical advice or treatments. Consult your own physician for specific advice about your personal situation to ensure proper diagnosis and treatment plan.



Symptoms do not typically appear until late adolescence or early adulthood.

  • Parkinsonism (symptoms similar to Parkinson’s disease)
    • Tremors (shaking)
    • Bradykinesia (slow movements)

    • Rigidity (stiffness)

    • Postural instability (loss of balance that causes unsteadiness)

  • Other muscle problems
    • Dystonia (involuntary muscle contraction and spasms)

    • Gait freezing (freezing while walking)

    • Spasticity (stiff, rigid muscles)

  • Cognitive (mental) decline with specific loss of expressive language skills
  • Can progress to dementia in adulthood