Neuronal ceroid lipofuscinosis

From Health Encyclopedia

Used for

amaurotic familial idiocy, Batten disease, hereditary ceroid lipofuscinosis, Kufs disease, Vogt Spielmeyer disease

Broader Terms

inborn lipid storage disorder, mental retardation

Facts (generated by robot; please edit if you find it inaccurate)

• Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
• Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
• Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.
• Late infantile neuronal ceroid lipofuscinosis is a progressive childhood neurodegenerative disorder characterized by intracellular accumulation of autofluorescent material resembling lipofuscin in neuronal cells.
• (2001) Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
• (1991) Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
• The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
• Neuronal Ceroid Lipofuscinosis Wikipedia Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis [[Image:|190px|center|]] ICD-10 E754 ICD-9 330.
• Research Infantile Neuronal Ceroid Lipofuscinosis (INCL) At this time, there is no effective treatment available for this genetic disease, which is the infantile form of a group of progressive, neurometabolic diseases.

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