MedGen

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. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

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). [from OMIM]

Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by Sharp et al., 2003; Mole et al., 2005). For a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. [from HPO]