Infantile cerebellar-retinal degeneration

Common Name(s)

Infantile cerebellar-retinal degeneration

Infantile cerebellar-retinal degeneration is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by {2:Spiegel et al., 2012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile cerebellar-retinal degeneration" for support, advocacy or research.

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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 "Infantile cerebellar-retinal degeneration" returned 1 free, full-text research articles on human participants. First 3 results:

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
 

Author(s): Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Shimon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit Shalev, Lars Feuk, Orly Elpeleg

Journal: Am. J. Hum. Genet.. 2012 Mar;90(3):518-23.

 

Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two ...

Last Updated: 31 Dec 1969

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The terms "Infantile cerebellar-retinal degeneration" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.