Pontocerebellar Hypoplasia

Common Name(s)

Pontocerebellar Hypoplasia

Description for this condition is not yet available.
 

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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

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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 "Pontocerebellar Hypoplasia" returned 29 free, full-text research articles on human participants. First 3 results:

[Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report].
 

Author(s): Lucía Rivas, Óscar Blanco, Cristina Torreira, Alfredo Repáraz, Cristina Melcón, Alfonso Amado

Journal: Rev Chil Pediatr. 2017 ;88(4):529-533.

 

Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic ...

Last Updated: 31 Dec 1969

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
 

Author(s): Ekaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, Kimia Kahrizi, Vincent Laugel, Elise Schaefer, Anne de Saint Martin, Karen Runge, Zafar Iqbal, Marie-Aude Spitz, Mary Laura, Nathalie Drouot, Bénédicte Gérard, Jean-François Deleuze, Arjan P M de Brouwer, Attia Razzaq, Hélène Dollfus, Muhammad Zaman Assir, Patrick Nitchké, Maria-Victoria Hinckelmann, Hilger Ropers, Sheikh Riazuddin, Hossein Najmabadi, Hans van Bokhoven, Jamel Chelly

Journal: Am. J. Hum. Genet.. 2017 Sep;101(3):428-440.

 

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized by hypoplasia of pons and cerebellum. Mutations in a small number of genes have been reported to cause PCH, and the vast majority of PCH cases are explained by ...

Last Updated: 31 Dec 1969

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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
 

Author(s): Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A Barr, Joseph G Gleeson

Journal: Am. J. Hum. Genet.. 2017 Sep;101(3):441-450.

 

Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known ...

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 "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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.