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GTR Home > Conditions/Phenotypes > Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Synonyms
Ceroid lipofuscinosis neuronal 4B autosomal dominant; Ceroid lipofuscinosis neuronal Parry type; Dominant form of adult neuronal ceroid-lipofuscinosis; Kufs disease autosomal dominant; Neuronal ceroid lipofuscinosis 4B
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Neuronal ceroid lipofuscinosis-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to 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). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN4, CLN4B, CSP, DNAJC5A, NCL, mir-941-2, mir-941-3, mir-941-4, mir-941-5, DNAJC5
    Summary: DnaJ heat shock protein family (Hsp40) member C5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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