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

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.
 

Author(s): Xulai Shi, Feixia Zheng, Xiuyun Ye, Xiucui Li, Qianlei Zhao, Zhongdong Lin, Ying Hu, Jiwen Wang

Journal: Medicine (Baltimore). 2018 Apr;97(15):e0316.

 

Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound ...

Last Updated: 31 Dec 1969

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Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models.
 

Author(s): Daniel Elbaum, Maria G Beconi, Edith Monteagudo, Annalise Di Marco, Maria S Quinton, Kathryn A Lyons, Andrew Vaino, Steven Harper

Journal:

 

In cells, phosphorylation of pantothenic acid to generate phosphopantothenic acid by the pantothenate kinase enzymes is the first step in coenzyme A synthesis. Pantothenate kinase 2, the isoform localized in neuronal cell mitochondria, is dysfunctional in patients with pantothenate ...

Last Updated: 31 Dec 1969

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

Botulinum toxin injection to improve functional independence and to alleviate parenting stress in a child with advanced pantothenate kinase-associated neurodegeneration: A case report and literature review.
 

Author(s): Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin

Journal: Medicine (Baltimore). 2018 May;97(20):e10709.

 

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation ...

Last Updated: 31 Dec 1969

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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

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: 7 Jun 2018

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NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
 

Status: Recruiting

Condition Summary: Neurodegeneration With Brain Iron Accumulation (NBIA)

 

Last Updated: 24 May 2018

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