" /> Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant - CISMeF





Preferred Label : Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant;

CISMeF acronym : EPMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EPMR; Epilepsy, progressive, with mental retardation; Northern epilepsy;

Description : 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 lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CLN8 transmembrane ER and ERGIC protein gene (CLN8, 607837.0001);

Laboratory abnormalities : Intracellular curvilinear profiles on ultrastructural analysis; Intracellular granular material on ultrastructural analysis;

Prefixed ID : #610003;

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28/04/2025


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