Pantothenate kinase-associated neurodegeneration

Common Name(s)

Pantothenate kinase-associated neurodegeneration, Pantothenate Kinase Associated Neurodegeneration (PKAN), Hallervorden-Spatz Syndrome

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pantothenate kinase-associated neurodegeneration" for support, advocacy or research.

Logo
Advocacy for Neuroacanthocytosis Patients

To support patients with neuroacanthocytosis and their families with information that may improve their lives and with human contact with others concerned with the diseases. To support research for therapies with seed-money research grants and to promote beneficial collaboration between researchers.

Last Updated: 20 May 2013

View Details
NBIA Disorders Association

In our drive to find a cure for Neurodegeneration with Brain Iron Accumulation (NBIA), we provide support to families, educate the public and accelerate research with collaborators from around the world.

Last Updated: 3 May 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pantothenate kinase-associated neurodegeneration" for support, advocacy or research.

Logo
Advocacy for Neuroacanthocytosis Patients

To support patients with neuroacanthocytosis and their families with information that may improve their lives and with human contact with others concerned with the diseases. To support research for therapies with seed-money research grants and to promote beneficial collaboration between researchers.

http://www.naadvocacy.org

Last Updated: 20 May 2013

View Details
NBIA Disorders Association

In our drive to find a cure for Neurodegeneration with Brain Iron Accumulation (NBIA), we provide support to families, educate the public and accelerate research with collaborators from around the world.

http://www.NBIAdisorders.org

Last Updated: 3 May 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pantothenate kinase-associated neurodegeneration" returned 22 free, full-text research articles on human participants. First 3 results:

A novel PANK2 mutation in a 12-year-old Chinese boy with pantothenate kinase-associated neurodegeneration.
 

Author(s): Li-Shou Pan, Li-Hua Yu, Yan-Ying Yin, Yan-Ming Xu

Journal: Neurol India. ;61(2):175-6.

 

Last Updated: 6 May 2013

Go To URL
Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?
 

Author(s): Bhavna Kaul, Vinay Goyal, Garima Shukla, Achal Srivastava, Ajay Garg, Benedikt Bader, Adrian Danek, Susan Hayflick, Madhuri Behari

Journal: Neurol India. ;61(2):169-70.

 

Last Updated: 6 May 2013

Go To URL
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
 

Author(s): Dario Brunetti, Sabrina Dusi, Michela Morbin, Andrea Uggetti, Fabio Moda, Ilaria D'Amato, Carla Giordano, Giulia d'Amati, Anna Cozzi, Sonia Levi, Susan Hayflick, Valeria Tiranti

Journal: Hum. Mol. Genet.. 2012 Dec;21(24):5294-305.

 

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, underlie an autosomal recessive inborn ...

Last Updated: 3 Dec 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pantothenate kinase-associated neurodegeneration" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
 

Status: Recruiting

Condition Summary: Pantothenate Kinase-Associated Neurodegeneration

 

Last Updated: 24 Apr 2014

Go to URL
Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)
 

Status: Recruiting

Condition Summary: Pantothenate Kinase-associated Neurodegeneration (PKAN)

 

Last Updated: 22 Apr 2013

Go to URL