Ceroid Lipofuscinosis Neuronal 4A Autosomal Recessive

Common Name(s)

Ceroid Lipofuscinosis Neuronal 4A Autosomal Recessive, Adult neuronal ceroid lipofuscinosis, Kufs Disease

Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by {1:Arsov et al., 2011}). In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({8:Mole et al., 2005}). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' profiles. ({8:Mole et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ceroid Lipofuscinosis Neuronal 4A Autosomal Recessive" for support, advocacy or research.

Batten Disease Support and Research Association

Our mission is to be an international support and research networking organization for families of children and young adults with an inherited neurological degenerative disorder known as Batten disease.

Last Updated: 7 Oct 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ceroid Lipofuscinosis Neuronal 4A Autosomal Recessive" for support, advocacy or research.

Batten Disease Support and Research Association

Our mission is to be an international support and research networking organization for families of children and young adults with an inherited neurological degenerative disorder known as Batten disease.

http://www.bdsra.org/

Last Updated: 7 Oct 2014

View Details

 

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 "Ceroid Lipofuscinosis Neuronal 4A Autosomal Recessive" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.