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.

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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

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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

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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

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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

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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 23 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

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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

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Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.
 

Author(s): Napala R Pratini, Nancy Sweeters, Elliott Vichinsky, Jacob A Neufeld

Journal: Am J Phys Med Rehabil. 2013 Aug;92(8):728-33.

 

Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous family of diseases characterized by high brain iron, particularly in the basal ganglia. The most common manifestation of childhood NBIA is classic pantothenate kinase-associated neurodegeneration (PKAN), ...

Last Updated: 22 Jul 2013

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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 1 free, full-text review articles on human participants. First 3 results:

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.
 

Author(s): Chih-Hong Lee, Chin-Song Lu, Wen-Li Chuang, Tu-Hsueh Yeh, Shih-Ming Jung, Chia-Ling Huang, Szu-Chia Lai

Journal:

 

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN.

Last Updated: 18 Dec 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)
 

Status: Recruiting

Condition Summary: Pantothenate Kinase-associated Neurodegeneration (PKAN)

 

Last Updated: 18 Aug 2014

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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

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