Ceroid Lipofuscinosis, Neuronal, 4 (CLN4)

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MedlinePlus Genetics: ⁴² CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. (The adult forms of NCLs, which includes CLN4 disease, are sometimes known as Kufs disease.) All the NCLs affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 4, also known as ceroid lipofuscinosis, neuronal, parry type, is related to ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 6b, and has symptoms including myoclonus, abnormality of extrapyramidal motor function and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 4 is DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5). Affiliated tissues include eye, brain and cerebellum, and related phenotypes are depression and bilateral tonic-clonic seizure

OMIM®: ⁵⁷ 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). (162350) (Updated 08-Dec-2022)

GARD: ¹⁹ Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: ⁷³ An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.

Disease Ontology: ¹¹ A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has material basis in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.

Clinical features from OMIM®:

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