Disease Information for Adult ceroid lipofuscinosis/Kufs

Clinical Manifestations
Signs & Symptoms
Babinski's upgoing toes/bilateral
Choreoathetoid movement
Cognitive defect
Extrapyramidal signs
Mental Deficiency Child
Movement or gait disorder/signs
Myoclonus/Myoclonic jerks on exam
Near recall/memory deficit/defect
Neurologic manifestations/signs
Neurological symptoms/signs
Progressive neurological disorder/signs
Rapidly progressive dementia
Staggering Gait
Psychiatric manifestations/problems/difficulties
Queer bizarre behavior/change
Episodic symptoms/events
Clinical Presentation & Variations
Presentation/Progressive Dementia
Presentation/Progressive Myoconic Epilepsy Adult
Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Thirties adult
Diagnostic Test Results
BX/Liver biopsy/Lipofuschin stain deposits
Path/Brain Autofluorescent storage material neurons
PATH/Neuronal ceroid lipofuscinosis
PATH/Fingerprint profiles/Ceroid storage
PATH/Immunoreactivity subunit c/mitochondrial ATPas
CT Scan
MRI/Head Brain Abnormal
MRI/Head Cerebral/Cerebellar atrophy
MRI/Head Cortical atrophy
MRI/Head Grey matter degeneration
MRI/Head Scan Abnormal
Associated Diseases & Rule outs
Rule Outs
Infantile ceroid lipofuscinosis/Finnish
Juvenile ceroid lipofuscinosis syndrome/Batten-M.
Late infantile ceroid lipofuscinosis/Jansky-B
Associated Disease & Complications
Adult ceroid lipofuscinosis syndrome/Kufs
Blindness in Children
Developmental neurologic degeneration/child
Mental retardation
Neurodevelopmental disorders
Ataxia Disorder
Disease Mechanism & Classification
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Ceroid Lipofuscinoses (ex)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
PROCESS/Storage disorder/brain (ex)
Adult Neuronal Ceroid Lipfuscinosis, Adult neuronal ceroid lipofusc, Adult neuronal ceroid lipofuscinosis, Adult neuronal ceroid lipofuscinosis (disorder), Adult type amaurotic idiocy, Amaurotic idiocy adult type, Amaurotic idiocy late familial, CEROID LIPOFUSCINOSIS NEURONAL 4 AUTOSOMAL RECESSIVE, CLN4, Disease Kufs', Kufs, KUFS DIS, Kufs Disease, Kuf's disease, Kufs' disease, KUFS DISEASE AUTOSOMAL RECESSIVE, Kufs neuronal ceroid lipofusc, Kufs type neuronal ceroid lipofuscinosis, Late familial amaurotic idiocy, Neuronal Ceroid Lipfuscinosis Adult, Neuronal lipofuscinosis adult, Synonym/ Amaurotic familial idiocy,Adult (Kuf), Synonym/Adult onset Ceroidosis (Kuf), Synonym/Bielchowsky disease (Lipofuscinosis), Synonym/Ceroid-Lipofuscinosis/Adult form (Kuf), Synonym/CLN4 (Kuf Lipofuscinosis 4/Adult), Synonym/Generalized Lipofuscinosis (Kuf), Synonym/Kufs syndrome, Synonym/Neuronal Ceroid Lipofuscinosis/Adult (Kuf), Synonym/Parry variant (dominant Kuf)

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;

---------[NORD 2004]--------------

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


External Links Related to Adult ceroid lipofuscinosis/Kufs
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)