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GTR Home > Conditions/Phenotypes > Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Synonyms
Ceroid lipofuscinosis neuronal 4A autosomal recessive; Neuronal ceroid lipofuscinosis 4A
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Neuronal ceroid lipofuscinosis-6B (CLN6B) is an autosomal recessive form of 'Kufs disease,' which refers in general to adult-onset neuronal ceroid lipofuscinosis without retinal involvement. CLN6B is a neurodegenerative disorder with a mean onset of symptoms at around age 28 years, although onset in the teens and later adulthood may also occur. Patients typically present with progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging. Ultrastructural examination typically shows fingerprint profiles and granular osmiophilic deposits in some tissues, including brain samples (summary by Arsov et al., 2011 and Berkovic et al., 2019). However, pathologic findings in peripheral tissues in adults is not as accurate for diagnosis as it is in children with the disease (Cherian et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN4A, CLN6A, HsT18960, nclf, CLN6
    Summary: CLN6 transmembrane ER protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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