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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers developed a neurological condition characterized by homochrony and homotypy: the first symptoms in both were generalized epileptic seizures, occurring at about the same age (30 years in the elder, 32 years in the younger), followed by a cerebellar syndrome with myoclonic jerks and some extrapyramidal symptoms. The elder of the two boys died at the age of 33 years. Histology showed extensive storage of ceroid-lipofuscin in the central nervous system (curvilinear bodies), in hepatocytes, in heart muscle and in the retina. In the younger boy, still living, a muscle biopsy (peroneal muscle) revealed accumulation of membrane-bound osmiophilic inclusions with curvilinear profiles. Retinal storage in Kufs' disease has never been documented. Muscle biopsy as a diagnostic tool for Kufs' disease has not been reported.
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PMID:Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other. 76 Mar 66

We reviewed the clinical and pathological data on 319 neuronal ceroid lipofuscinosis (NCL) cases to determine the degree of variability within the different forms and among and within families. Thirty-six cases (11.3%) were the infantile form; 116 cases (36.3%), late infantile; 163 cases (51.1%), juvenile; and four cases (1.3%), the adult form (Kufs disease). Clinical variability was found in all forms studied, but was most striking in the juvenile and late infantile forms of NCL. The expected initial findings of seizures, dementia, blindness, or motor impairment were evident in 255 cases (80%), and rarer, less typical initial neurological symptoms were seen mainly in the 64 cases (20%) of the juvenile form: behavior abnormalities (18/64), psychoses (12/64), neuropathy (2/64), involuntary movements (15/64), ataxia (9/64). Six juvenile and two adult cases had no detectable impairment of vision. All 319 NCL cases had skin or conjunctive biopsies or buffy coats that showed the characteristic ultrastructural abnormalities of NCL. Variability was evident in 16.7% in that a combination of fingerprint, curvilinear, and membranous profile inclusion bodies was observed in storage lysosomes, although one type of inclusion was distinctly predominant for each form. Postmortem examination of brains of 19 NCL cases (three with the infantile form, six with the late infantile form, nine with the juvenile form, and one with the adult form) revealed characteristic changes. Sixteen of the 19 NCL brains (84%) showed pathological variability in that they contained more than one kind of characteristic inclusion body in the neuronal lysosomal storage compartment. In all 19 NCL brains, small amounts of aging lipofuscin were also found.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. 131 16

A 32-year-old woman presented with increasing motor difficulties and memory disturbances. Neurological examination only showed mild cerebellar and extrapyramidal symptoms, whereas neuropsychological evaluation disclosed severe cognitive changes consistent with dementia. Her motor and mental status progressively deteriorated until death, which occurred 5 years after the first admission. One year before death, while she was almost bedridden, symptoms of myoclonic epilepsy first appeared, with frequent generalized seizures and generalized myoclonus, occurring especially upon sensory stimulation or passive joint movements. Pathological examination showed neuronal inclusions typical of Kufs' disease. This case, with primary progressive dementia and late-onset myoclonic epilepsy, differs from previously reported cases. Three special electrophysiological features were abnormal, "giant", evoked potentials; unusually marked photosensitivity; and seizure induction by any sensory stimulation.
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PMID:Kufs' disease presenting as progressive dementia with late-onset generalized seizures: a clinicopathological and electrophysiological study. 173 61

Neuronal ceroid lipofuscinosis is a common cause of neurodegenerative disease in children. The disease is characterized by visual failure, seizures and dementia. The presence of cortical atrophy by computerized axial tomography and distinctive ultrastructural findings by skin biopsy, together with a suggestive clinical course and neurophysiologic abnormalities, lead to a diagnosis. Presently four subtypes and rare atypical forms are recognized: the infantile, late infantile, juvenile and adult or Kufs variants and atypical early juvenile and protracted juvenile types. The inheritance pattern is autosomal recessive in all subtypes with some of the adult cases representing autosomal dominant inheritance. The biochemical characterization of this disorder is just beginning. There is some evidence to implicate overglycosylation of proteins as playing a role in pathogenesis. Further biochemical description coupled with linkage analysis techniques using DNA probes are needed to develop a better understanding of this group of disorders.
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PMID:Neurological progress. The neuronal ceroid lipofuscinoses: a review. 265 76

Among the different clinical forms of neuronal ceroid-lipofuscinosis (NCL), the adult type is the least frequent, most sporadic and most difficult one to diagnose. Clinical symptomatology differs from the classical childhood NCL forms in that ocular symptoms are absent while changes of behavior, dementia and seizures dominate the clinical picture. Excessive accumulation of NCL-specific lipopigments has largely been explored in the nervous system, where pigmento-architectonic investigations disclose layer-specific cortical pathology similar to but less pronounced than that of juvenile and protracted juvenile NCL. Ultrastructural analysis of lipopigments in adult NCL reveals diversity of lipopigment fine structure, but less impressive than in the childhood forms of NCL. Abnormal accretion of lipopigments outside the nervous system has rarely been demonstrated and requires ampler documentation, making in vivo diagnosis of adult NCL often difficult and sometimes equivocal. Adult NCL is now frequently considered identical to "Kufs' disease". However, in the past, the latter term has comprised a heterogeneous spectrum of lipidoses the NCL-nature of which had not been unequivocally established. Thus, one may either speak of "Kufs' syndrome" or abandon this term altogether. Although patients afflicted with adult NCL may suffer from Kufs' disease, not all who have and had Kufs disease may have or have had adult NCL. The current debate on adult NCL centers around scepticism concerning many of the earlier reports, on incorporating diagnostic studies of non-CNS organs in presumptive patients and on distinguishing adult NCL from "atypical" patients or forms of NCL, as well as other disorders marked by non-specific abnormal accumulation of lipofuscin.
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PMID:Adult neuronal ceroid-lipofuscinosis. 266 81

We describe 3-year clinical course of a 54-year-old Japanese man who presented with action myoclonus, parkinsonism and epilepsy. There was no family history or consanguinity. The patient was well until the age of 51 years (in 1986), when he noted slow movements, memory disturbance and left hand tremor. He was treated with anti-Parkinson drugs without any improvements. Soon thereafter, he developed a gait disturbance and generalized tonic clonic seizures. He was admitted to our service at the age of 53 years. General physical examination revealed no hepatosplenomegaly. Neurological examination showed mild dementia. Neither retinal pigmentation nor cherry red spot was noted. He was unable to walk due to marked frozen gait. His upward gaze was limited and saccadic eye movement was slow. He had action myoclonus in both upper extremities and resting tremor on the left side. He showed mild left hemiparesis. Deep tendon reflex was hyperactive in both side with extensor plantar responses. MRI demonstrated cortical atrophy, especially marked at the bilateral temporal lobes with a right side predominance. Leukocyte lysosomal enzyme activities of beta-hexosaminidase, beta-galactosidase and sialidase were within normal limits. The patient died of pneumonia on April 25, 1989. At the time of a neurological CPC, neurologists reached the clinical diagnosis of adult-type neuronal ceroid-lipofuscinosis. Postmortem examination revealed bilateral bronchopneumonia. The brain weighed 1,219 g and showed atrophy of the temporal lobes. Histological examination showed neuronal cells with swollen cytoplasm and lipofuscin-like granules throughout the CNS, including the cerebral cortex, thalamus, substantia nigra, motor nuclei of the brain stem, dentate nuclei, inferior olivary nuclei. Clarke's nuclei and anterior horn cells. Marked neuronal loss was noted in the right temporal lobe and substantia nigra. Electron micrographs of the frontal cortex revealed "fingerprint profiles" in the cytoplasm of neuronal and glial cells. Pathological findings were consistent with the diagnosis of adult-type neuronal ceroid-lipofuscinosis (Kufs' disease).
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PMID:[A 54-year-old man with action myoclonus, parkinsonism and epilepsy]. 1058 20

Kufs' disease is the rare, adult-onset form of the neuronal ceroid-lipofuscinoses (NCL). Two clinical Kufs' phenotypes have been described, one featuring generalized tonic-clonic seizures and the other characterized by dementia. Autosomal dominant inheritance of Kufs' disease has been reported for only two families. The genetic and molecular defects underlying Kufs' disease are unknown. We report a third family with apparent autosomal dominant Kufs' disease in a family of English ancestry. Ten individuals (five men, five women) have been affected over five generations. Age of onset typically is in the fourth decade of life and is heralded by seizures. Clinical and neuropsychological assessments in several affected individuals, however, confirm the presence of dementia and follow-up evaluations suggest that dementia is the primary disabling feature of the illness. Motor abnormalities also are frequent. Neuropathological examination (three cases) documents the presence of neuronal lipopigment accumulation consistent with NCL. The combination of dementia and seizures in this and two other reported families with autosomal dominant Kufs' disease suggest that this entity represents a distinctive clinicopathological entity. Dementia is prominent but is almost always associated with generalized seizures and motoric disturbances early in the disease course. Kufs' disease should be considered in the differential diagnosis of early onset, atypical dementia.
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PMID:Autosomal dominant Kufs' disease: a cause of early onset dementia. 1148 85

An 8-year-old Labrador Retriever with an 11-month history of progressive partial seizures and necropsy examination findings characteristic of the lamellar form of canine neuronal ceroid-lipofuscinosis (NCL) is presented. The clinical, light microscopic, and ultrastructural features of this case most closely resemble human adult-onset NCL (Kufs disease). This is the first report of NCL occurring in the Labrador Retriever breed.
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PMID:Neuronal ceroid-lipofuscinosis in a Labrador Retriever. 1453 46

The clinico-pathologic features of two siblings with biopsy-proven adult onset neuronal ceroid lipofuscinosis (Kufs' disease) are described. A 38-year-old woman had intractable seizures, delusions and hallucinations followed by ataxia, declining cognitive function and death. At autopsy there was widespread cerebral neuronal accumulation of autofluorescent pigment, in which fingerprint profiles were demonstrated. Systemic involvement was not demonstrated. A 43-year-old brother developed slowly progressive cerebellar ataxia and was found to have similar neuronal autofluorescent pigment on brain biopsy. Nine years later there is gradual cognitive decline and profound ataxia. The salient features of Kufs' disease including cases published since 1988 are reviewed.
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PMID:Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. 1460 83

Neuronal ceroid lipofuscinoses are a heterogenous group of genetic progressive neurodegenerative disorders. Curative therapeutic strategies are not known. These are largely diseases of childhood; adult-onset forms are rare and poorly characterized. The classical adult variant is CLN4 (Kufs' disease), in which autosomal-recessive and autosomal dominant forms are known. Furthermore the "classic infantile" CLN1, caused by a deficiency of the enzyme palmitoylprotein-thioesterase, may be of adult onset Neuronal ceroid lipofuscinoses in adulthood are multifaceted diseases. Their clinical picture is mainly characterized by progressive dementia, seizures, and extrapyramidal motor symptoms. In contrast to the infantile forms, visual loss is an uncommon feature that appears only in adult CLN1 but not CLN4, which may be helpful in clinical differential diagnosis.
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PMID:[Adult-onset neuronal ceroid lipofuscinosis]. 1718 Jun 69


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