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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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 26 free, full-text research articles on human participants. First 3 results:

First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration.
 

Author(s): Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng

Journal: J. Assist. Reprod. Genet.. 2017 Jan;34(1):109-116.

 

We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation.

Last Updated: 31 Dec 1969

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Pantothenate Kinase Associated Neurodegeneration in Two Brothers.
 

Author(s): Bruno Niemeyer de Freitas Ribeiro, Tiago Medina Salata, LĂ­via de Oliveira Antunes, Beatriz Salata Antunes

Journal: Acta Med Port. ;28(5):674.

 

Last Updated: 31 Dec 1969

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Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
 

Author(s): Randall L Woltjer, Lindsay C Reese, Brian E Richardson, Huong Tran, Sarah Green, Thao Pham, Megan Chalupsky, Isabella Gabriel, Tyler Light, Lynn Sanford, Suh Young Jeong, Jeffrey Hamada, Leila K Schwanemann, Caleb Rogers, Allison Gregory, Penelope Hogarth, Susan J Hayflick

Journal: Mol. Genet. Metab.. 2015 Dec;116(4):289-97.

 

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive movement disorder that is due to mutations in PANK2. Pathologically, it is a member of a class of diseases known as neurodegeneration with brain iron accumulation (NBIA) and features increased tissue iron and ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 27 Sep 2016

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Compassionate Use of Deferiprone in Patients With PKAN
 

Status: Available

Condition Summary: Pantothenate Kinase-Associated Neurodegeneration

 

Last Updated: 27 Jun 2017

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Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients
 

Status: Recruiting

Condition Summary: Pantothenate Kinase-Associated Neurodegeneration

 

Last Updated: 12 Dec 2017

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