Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.
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PMID:Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease. 18 51

A 32-year-old male was admitted to our hospital complaining of dementia, gait disturbance and blindness. These symptoms developed at the early two decade and were progressive. On admission, his clinical features included dementia (IQ = 69), spasticity, accentuated deep tendon reflexes, ataxia and hypesthesias in his distal limbs. Brain CT scans showed diffuse cerebral atrophy. On light microscopy, many abnormal lipopigments resembling ceroid and lipofuscin were found in Schwann cells of sural nerve and histiocytes of colon. Ultrastructurally, these materials showed lamellar structure like Zebra bodies. Nine lysosomal enzymes, serum very long-chain fatty acids, serum amino acids and urinary oligosaccharides were all normal. Neuronal ceroid lipofuscinosis (NCL) of adult type was diagnosed on the basis of clinical features, radiological and pathological findings, and biochemical studies. Many previous studies suggested that NCL was a disorder with lysosomal dysfunction. We examined lysosomal protein degradation, using 125I-low density lipoprotein (LDL) in cultured fibroblasts from this patient. The degradation of LDL was normal, compared to control subjects. The activities of cathepsin and lysosomal glycosidases, were also normal. The amount of urinary dolichol has been reported to be elevated in the patients with infantile and late infantile types of NCL. However, no elevation was found in the urine of our patient.
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PMID:[Adult-onset neuronal ceroid lipofuscinosis--a case report with biological study]. 129 Nov 75

We studied 14 Arab infants with infantile spongy degeneration, 13 of whom were products of consanguineous marriages. They presented in infancy with macrocephaly, poor visual behavior or blindness, and axial hypotonia with appendicular spasticity. Brain CT and MRI showed diffuse symmetric leukoencephalopathy, even before neurologic symptoms. There were relatively normal EEGs. The visual evoked responses (P100) were either absent or delayed early in the course. The brainstem auditory evoked responses showed milder abnormalities, with loss of later components before the earlier ones. Deficient aspartoacylase activity in cultured fibroblasts or brain biopsy confirmed the diagnosis in all patients.
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PMID:Infantile CNS spongy degeneration--14 cases: clinical update. 224 37

We report 14 cases of a severe familial leukoencephalopathy among native North American Indian infants in northern Quebec and Manitoba. Affected infants have hypotonia and mild motor delay, followed by seizures, hypotonia or spasticity, eye deviation, and abnormal posture during a febrile illness around 6 months of age. Death follows a rigid, vegetative state that manifests days to months after disease onset and is marked in some cases by prominent autonomic disturbances, blindness, and cessation of head growth. Symmetrical hemispheric white matter lucencies and diffuse hypomyelination of the cerebral hemispheres and brainstem are the radiological and pathological hallmarks. This disease differs from the known diseases of cerebral myelin. An autosomal recessive pattern of inheritance awaits statistical confirmation. The proposed cause is a delay in development or abnormal turnover of central nervous system myelin.
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PMID:Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. 323 51

There are several clinically distinct forms of neuronal ceroid lipofuscinosis whose presentation and pathology are usually homogeneous within families. Several atypical variants have also been reported. We have studied an inbred sibship in which neuronal ceroid lipofuscinosis appeared to present in two completely different ways. In the proband, the course was compatible with a somewhat atypical juvenile variant. Ataxia and spasticity started at 4.5 years, followed by blindness with optic atrophy, intractable seizures, dementia, and death at 14 years. Atypical features included areflexia, hypotonia, and ataxia. Electron microscopic studies of her skin and her rectal ganglion cells showed lucent, dense, and fingerprint inclusions that were also found in the central nervous system at autopsy. Her brother and sister developed difficulty walking at ages 8.5 and 10.5 years and are alive at 24 and 18 years. They presented with slowly progressive spinocerebellar degeneration with sensorimotor neuropathy without dementia, seizures, or visual impairment. Lysosomal enzymes and lipoprotein analysis were normal in all three siblings and their parents. Elevated dolichol in the urine and lucent, dense, and fingerprint inclusions in skin, cutaneous nerve, buffy coat lymphocytes in both siblings and in the sural nerve of the brother suggest that their disease may represent a novel phenotype of neuronal ceroid lipofuscinosis. While it is possible that two different recessive genes may be segregating in this consanguineous family, we cannot dismiss the possibility that variability of gene expression may account for the divergent phenotypes.
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PMID:Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family. 342 77

The youngest patient with eosinophilic meningoencephalitis to be reported from Australia, an 11-month-old girl, is presented here. The diagnosis of angiostrongyliasis was based on the exclusion of other possibilities, the strongly-positive results of serological examination and the findings of an environmental survey. Clinical signs of serious brain damage, with persistent blindness, profound mental retardation, spasticity and epilepsy more than three years later, indicate that this infection is not always as benign as is considered generally.
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PMID:Eosinophilic meningoencephalitis with permanent sequelae. 362 48

Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.
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PMID:Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 365 73

Four infants with the 'shaken infant syndrome' are described. None had skull fractures and only one had a subdural hematoma. All had extensive retinal and pre-retinal hemorrhages. Follow-up computerized tomography showed severe brain atrophy, multiple hypodense areas and ventricular enlargement. Three of the patients suffered severe, permanent brain damage, with mental retardation, spasticity and blindness. It is suggested that the underlying pathogenesis of this syndrome is acutely increased intrathoracic pressure, transmitted into the head to cause multiple venous infarctions. Retinal and pre-retinal hemorrhages are cardinal features of this syndrome and their presence should raise the suspicion of this form of battering in the absence of the 'classical' signs of battering.
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PMID:Neurological manifestations in abused children who have been shaken. 401 25

Two cases of metachromatic leukodystrophy, of the late infantile form are reported. The patients were a girl and a boy of 2 years 10 months old, with initial normal development, but by the age of 18 months began with gait disturbances, difficulty to speak and developed progressive mental deterioration, with signs of long tract involvement, absence of deep tendon reflexes, spasticity, blindness, muscle atrophy and finished in a vegetative state. The diagnosis was made electromyography (signs of denervation), motor nerve conduction velocity (very decreased), assay of arylsulfatase A in the urine (absence of activity), sural nerve biopsy (demyelination and presence of metachromatic granules by the cresyl-violet and toluidine blue) and muscle biopsy (atrophy of type I fibers and presence of metachromatic material in the intramuscular nerve fibers). A quick revision about diagnostic methods, transmission, pathogenesis and variant forms is made.
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PMID:[Metachromatic leukodystrophy: report of 2 cases with histochemistry of nerves and muscles]. 611 Apr 17

Progressive spasticity, blindness, loss of skills, and neuropathy developed in a 4.5-month-old boy. When examined at 13 months, galactocerebrosidase and galactosylceramide-beta-galactosidase activities were deficient in leukocytes. Intramuscular nerves and a sural nerve biopsy specimen showed loss of nerve fibers, interstitial fibrosis, and axonal degeneration, rather than the segmental demyelination that predominates in most cases. A muscle biopsy specimen showed congenital muscle fiber-type disproportion (CMFTD). This case confirms a previous report of CMFTD in Krabbe's disease and supports a neurogenic mechanism as the basis for CMFTD.
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PMID:Congenital muscle fiber-type disproportion in Krabbe's leukodystrophy. 727 38


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