Pontocerebellar hypoplasia type 2

Common Name(s)

Pontocerebellar hypoplasia type 2

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 type 2" 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 type 2" returned 3 free, full-text research articles on human participants. First 3 results:

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

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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
 

Author(s): John M Graham, Andrew H Spencer, Inessa Grinberg, Charles E Niesen, Lawrence D Platt, Marcel Maya, Yasmin Namavar, Frank Baas, William B Dobyns

Journal: Am. J. Med. Genet. A. 2010 Sep;152A(9):2268-76.

 

The pontocerebellar hypoplasias (PCH) are a group of early-onset, autosomal recessive disorders resulting in abnormal growth and function of the brainstem and cerebellum. PCH type 2 (PCH2) is characterized by respiratory and feeding difficulties at birth, extrapyramidal dyskinesia, ...

Last Updated: 30 Aug 2010

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Pontocerebellar hypoplasia type 2: a neuropathological update.
 

Author(s): Peter G Barth, Eleonora Aronica, Linda de Vries, Peter G J Nikkels, Wiep Scheper, Jeroen J Hoozemans, Bwe-Tien Poll-The, Dirk Troost

Journal: Acta Neuropathol.. 2007 Oct;114(4):373-86.

 

Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; ...

Last Updated: 27 Sep 2007

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Reviews from the PubMed Database

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The terms "Pontocerebellar hypoplasia type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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