Disease Information for Adult ceroid lipofuscinosis/Kufs

Synonyms of Kufs Disease; Adult-Onset Ceroidosis; Amaurotic Familial Idiocy, Adult; Ceroid-Lipofuscinosis, Adult form; Generalized Lipofuscinosis; Neuronal Ceroid Lipofuscinosis, Adult Type; Kufs Disease is characterized by neurologic symptoms that may mimic mental illness, movement malfunction, and problems with sight; Kufs Disease is linked to excess accumulations of pigments (lipofuscins) dissolved in fat tissues that are found throughout the central nervous system; Kufs Disease, Batten Disease, Bielchowsky Disease, and Santavuori-Haltia Disease are different forms of the same family of disorders (neuronal ceroid lipofuscinoses [NCL]) that are differentiated by the age of onset; The various forms of this disorder are often extremely difficult to differentiate from other progressive degenerative diseases of the central nervous system;

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NEURONAL CEROID LIPOFUSCINOSIS, ADULT TYPE; NCL; KUFS DISEASE; KUFS DISEASE, AUTOSOMAL RECESSIVE; CEROID LIPOFUSCINOSIS, ; autosomal recessive adult neuronal ceroid lipofuscinosis (NCL or CLN) in at least 1 family is caused by mutation in the palmitoyl-protein thioesterase-1 gene (PPT1); The neuronal ceroid lipofuscinoses are a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues; different forms have been described according to age of onset; The adult form is distinguished clinically by onset of symptoms in adulthood and by absence of ocular involvement; [onset 18-20, death by 40-50, m=f]; rare cases : similar clinical picture characterized by seizures, intellectual deterioration, lack of motor control, and development of athetoid movements; autosomal recessive inheritance; generalized epileptic seizures, at ages 30 and 32, followed by a cerebellar syndrome with myoclonic jerks and extrapyramidal symptoms; autopsy showed extensive storage of ceroid lipofuscin as curvilinear bodies in the central nervous system and in hepatocytes, heart muscle, and retina; lipofuscin accumulation on peroneal muscle biopsy; The eye grounds were normal; one family traits characterized by episodic stuporous and psychotic states, mental retardation, generalized convulsions, and ichthyosis vulgaris; showed excessive accumulation of lipofuscin throughout the central nervous system, particularly in neurons of the thalamus, substantia nigra, inferior olivary nuclei, brain stem motor nuclei, and cerebral cortex; electron microscopy for definitive diagnosis; skin cells, rectal biopsy, peroneal muscle biopsy; Recessive (KUFS) and dominant (Parry) types become CLN-4 and CLN-5; Kufs disease: type A begins with progressive myoclonic epilepsy with later development of dementia and ataxia, and type B [parry variant dominant] is characterized by dementia with cerebellar and/or extrapyramidal motor symptoms; Both types have onset around age 30 years, and both have absence of retinal degeneration or blindness; seizures and myoclonus, and later developed ataxia and mental deterioration

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