" /> Ceroid lipofuscinosis, neuronal, 4 (kufs type) - CISMeF





Preferred Label : Ceroid lipofuscinosis, neuronal, 4 (kufs type);

Symbol : CLN4;

CISMeF acronym : CLN4B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, parry type;

Description : The neuronal ceroid lipofuscinoses are a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). An adult form, sometimes referred to as Kufs disease, is distinguished clinically by onset of symptoms in adulthood and by absence of ocular involvement. For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 5 gene (DNAJC5, 611203.0001);

Laboratory abnormalities : 'Curvilinear' profiles ultrastructurally; 'Rectilinear' profiles ultrastructurally; Granular osmiophilic deposits (GROD) in cells; 'Fingerprint' profiles ultrastructurally;

Prefixed ID : #162350;

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02/05/2025


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