Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The adult type of neuronal ceroid lipofuscinosis (NCL) occurred in a 49-year-old man and his 51-year-old sister. They showed episodic stuporous and psychotic states, mental retardation, generalized convulsions, and ichthyosis vulgaris. At autopsy the woman had excessive accumulation of lipofuscin throughout the CNS. The degree of neuronal lipopigment accumulation was very severe in the neurons of the thalamus, substantia nigra, inferior olivary nuclei, motor nuclei of the brain stem, and cerebral cortex. Mental symptoms, such as stupor, excitement, hallucinations, and delusions, were the predominant clinical manifestations and so were misdiagnosed as schizophrenia. Though the clinical diagnosis of the adult type of NCL (Kufs' disease) is difficult because of its wide variety of manifestations, symptoms such as episodic psychotic and stuporous states accompanied by convulsive disorders with mild neurologic signs may be an indication of this disease.
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PMID:Familial occurrence of adult-type neuronal ceroid lipofuscinosis. 647 18

A sporadic case of neuronal ceroid lipofuscinosis (Kufs' disease) in a 29-year-old man is reported. At onset the disease resembled schizophrenia (thought disorder, flat affect, paranoia, hallucinations and inappropriate behaviour), but after the appearance of associated neurological symptoms such as myoclonic jerks, cerebellar ataxia, rigidity and involuntary movements a neurological disorder was suspected. Cortical biopsy established the diagnosis.
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PMID:Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case. 730 34