Pontocerebellar Hypoplasia

Common Name(s)

Pontocerebellar Hypoplasia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pontocerebellar Hypoplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Pontocerebellar Hypoplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Pontocerebellar Hypoplasia" returned 21 free, full-text research articles on human participants. First 3 results:

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
 

Author(s): Martin W Breuss, Tipu Sultan, Kiely N James, Rasim O Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al-Owain, Fowzan S Alkuraya, Miriam S Reuter, Rami Abou Jamra, Christopher R Trotta, Joseph G Gleeson

Journal: Am. J. Hum. Genet.. 2016 Jul;99(1):228-35.

 

The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved in the cleavage of intron-containing tRNAs. In human it consists of the catalytic subunits TSEN2 and TSEN34, as well as the non-catalytic TSEN54 and TSEN15. Recessive mutations in the corresponding ...

Last Updated: 9 Jul 2016

Go To URL
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
 

Author(s): Marion Stoll, Hooiling Teoh, James Lee, Stephen Reddel, Ying Zhu, Michael Buckley, Hugo Sampaio, Tony Roscioli, Michelle Farrar, Garth Nicholson

Journal: Neurology. 2016 Jul;87(1):65-70.

 

To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation.

Last Updated: 5 Jul 2016

Go To URL
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
 

Author(s): Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G Gleeson, Bülent Kara

Journal: Turk. J. Pediatr.. ;57(3):286-9.

 

The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have been reported ...

Last Updated: 24 Dec 2015

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

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
 

Author(s): Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Frank Baas

Journal:

 

Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including ...

Last Updated: 23 Aug 2011

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.