Cerebellar Hypoplasia

Common Name(s)

Cerebellar Hypoplasia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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 "Cerebellar Hypoplasia" returned 24 free, full-text research articles on human participants. First 3 results:

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
 

Author(s): Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L Christian, Jean-Baptiste Rivière, Christopher T Sullivan, Jyotsna Sudi, Michael J Herriges, Alexander R Paciorkowski, A James Barkovich, Joseph T Glessner, Kathleen J Millen, Hakon Hakonarson, William B Dobyns, Elliott H Sherr

Journal: PLoS Genet.. 2013 ;9(10):e1003823.

 

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 ...

Last Updated: 7 Oct 2013

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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
 

Author(s): Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza, Orsetta Zuffardi, Saverio Francesco Retta, Giovanni Stevanin, Cecilia Marelli, Alexandra Durr, Sylvie Forlani, Jamel Chelly, Francesca Montarolo, Filippo Tempia, Hilary E Beggs, Robin Reed, Stefania Squadrone, Maria C Abete, Alessandro Brussino, Natascia Ventura, Ferdinando Di Cunto, Alfredo Brusco

Journal: J. Med. Genet.. 2013 Aug;50(8):543-51.

 

We identified a balanced de novo translocation involving chromosomes Xq25 and 8q24 in an eight year-old girl with a non-progressive form of congenital ataxia, cognitive impairment and cerebellar hypoplasia.

Last Updated: 16 Jul 2013

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Congenital ataxia due to cerebellar malformation presenting with unilateral hypoplasia.
 

Author(s): Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, José Luiz Pedroso, Orlando Graziani Povoas Barsottini

Journal: Arq Neuropsiquiatr. 2013 Mar;71(3):198.

 

Last Updated: 8 Apr 2013

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

Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.
 

Author(s): P Martinelli, G M Maruotti, A Agangi, L L Mazzarelli, G Bifulco, D Paladini

Journal: Ultrasound Obstet Gynecol. 2004 Aug;24(2):199-201.

 

Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation ...

Last Updated: 2 Aug 2004

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
 

Author(s): Carsten Bergmann, Klaus Zerres, Jan Senderek, Sabine Rudnik-Schoneborn, Thomas Eggermann, Martin Häusler, Michael Mull, Vincent T Ramaekers

Journal: Brain. 2003 Jul;126(Pt 7):1537-44.

 

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus ...

Last Updated: 23 Jun 2003

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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