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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
 

Author(s): Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

Journal:

 

The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), ...

Last Updated: 7 Aug 2017

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Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution.
 

Author(s): S Fiori, A Poretti, K Pannek, R Del Punta, R Pasquariello, M Tosetti, A Guzzetta, S Rose, G Cioni, R Battini

Journal: AJNR Am J Neuroradiol. 2016 May;37(5):917-23.

 

Advances in MR imaging modeling have improved the feasibility of reconstructing crossing fibers, with increasing benefits in delineating angulated tracts such as cerebellar tracts by using tractography. We hypothesized that constrained spherical deconvolution-based probabilistic tractography ...

Last Updated: 14 May 2016

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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
 

Author(s): Alistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, Niko Popitsch, Samantha J L Knight, David A Keays, Gerardine Quaghebeur, Helen Cox, Phillip Cox, Tamas Balla, Jenny C Taylor, Usha Kini

Journal: Hum. Mol. Genet.. 2015 Jul;24(13):3732-41.

 

Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in a family where three fetuses had all been ...

Last Updated: 9 Jun 2015

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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 1 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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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: 18 Oct 2017

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