" /> Ceroid lipofuscinosis, neuronal, 5 - CISMeF





Preferred Label : Ceroid lipofuscinosis, neuronal, 5;

Symbol : CLN5;

CISMeF acronym : CLN5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 5, variable age at onset;

Included titles and symbols : Neuronal ceroid lipofuscinosis, late infantile, finnish variant; Finnish vlincl;

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 CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (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 CLN5 intracellular trafficking protein gene (CLN5, 608102.0001);

Laboratory abnormalities : 'Curvilinear' profiles ultrastructurally; 'Fingerprint' profiles ultrastructurally; 'Rectilinear' profiles ultrastructurally;

Prefixed ID : #256731;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.