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)

Aberrant iron metabolism in the brain is typified by Hallervorden-Spatz syndrome. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra. It is characterized by extrapyramidal dysfunction, as demonstrated by dystonia, rigidity, and choreoathetosis; onset during the first two decades of life; and progression of signs and symptoms. Corroborative findings include corticospinal tract involvement, ie, spasticity and extensor toe signs, progressive intellectual impairment, retinitis pigmentosa and optic atrophy (usually associated visual evoked response and electroretinogram abnormalities), seizures, familial occurrence, hypointense areas in the basal ganglia on magnetic resonance imaging scans (particularly in the substantia nigra), abnormal cytosomes in circulating lymphocytes, and sea-blue histiocytes in bone marrow. Iron function in normal brain metabolism is manifold, but high concentrations of iron in the basal ganglia area may signal a unique relationship. Data support the likelihood that iron plays a role in the modulation of dopamine binding to postsynaptic receptors. In addition, transferrin receptors and iron are also concentrated in oligodendrocytes in normal brain and, thus, may have a function in myelination. A role of iron also seems likely in oxidation and peroxidation reactions involving membranes and DNA, a capability that becomes uncontrolled when protective biologic mechanisms become inadequate.
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PMID:Hallervorden-Spatz syndrome and brain iron metabolism. 184 35

As mentioned previously, both MS and PML are demyelinating conditions of the CNS and pose diagnostic difficulties in their differentiation because of similarities in their clinical findings. However, certain features unique to each of these diseases are helpful in clinical diagnosis. MS, unlike PML, is a disease of unknown cause. Polygenetic influences in combination with exposure to an environmental agent and immune-mediated factors may be operative in the pathogenesis of MS. Age of onset peaks in the third to fourth decades with a predominance in women, as contrasted with PML, which peaks in the fifth to sixth decades in most non-AIDS-associated cases with a slight predominance in men. MS is more prevalent in areas farther from the equator: North America, Europe, Australia, and New Zealand. Common initial symptoms seen in MS include bilateral limb weakness (with the legs being affected twice as often as the arms), hyperreflexia, spasticity, optic neuritis, diplopia, incoordination, and paresthesias. (Paresthesias are typically found in the lower limbs in a symmetric pattern, but may follow no obvious anatomic distribution and often do not correspond to the distribution of sensory symptoms. Vibration and position sense are more frequently disturbed than pain and temperature.) Intellectual impairment and mental deterioration are uncommon early in MS, whereas they are a more frequent initial presentation in PML. In addition, the presence of speech impairment and monoparesis or hemiparesis with homonymous hemianopsia is more suggestive of PML. Brain stem involvement is infrequent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Chronic encephalitis caused by leukoencephalopathy. 222 61

Distinct chronic posttraumatic syndromes, ascribed to neurological deficits of patients suffering severe head injuries and being in prolonged coma, are much less frequently encountered in the literature than acute traumatic syndromes. The major components of the posttraumatic midbrain syndrome, resulting from compressive necrosis or vascular infarction at the midbrain level, are ipsilateral cerebellar signs (the predominant one being intention tremor), contralateral pyramidal signs (the predominant one being a spastic-dystonic hemiparesis), dysarthria, and mild to moderate intellectual impairment. Significant bilateral cerebellar dysfunction following head injury, without pyramidal, extrapyramidal, or pseudobulbar signs, constitutes a posttraumatic cerebellar syndrome. Its most disabling component, namely posttraumatic intention tremor, may be alleviated by thalamotomy. Following severe closed head injury, an infrequently encountered posttraumatic entity of dystonic hemiplegia or hemiparesis, which may be alleviated by thalamotomy, can occur, but does not have a specific neuroanatomical basis. Intention tremors following severe head injuries, rarely associated with hydrocephalus and without other significant cerebellar findings, can develop as a dysfunction of the cerebellofugal outflow system. While chronic posttraumatic syndromes can be complex and difficult to treat, cerebellar stimulation has been utilized ipsilaterally to modulate limb spasticity, and bilateral ventrolateral cryothalamectomies staged 4-6 months apart have been successful in alleviating severe (intractable) intention tremors.
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PMID:Rehabilitative neurosurgery: posttraumatic syndromes. 262 1

Analysis of the neurologic symptomatology in 22 patients with Niemann-Pick disease type C revealed 3 phenotypes: (1) an early-onset, rapidly progressive form associated with severe hepatic dysfunction and psychomotor delay during infancy and later with supranuclear vertical gaze paresis, ataxia, marked spasticity, and dementia; (2) a delayed-onset, slowly progressive form heralded by the appearance, usually in early childhood, of mild intellectual impairment, supranuclear vertical gaze paresis, and ataxia, and later associated with dementia and, variably, seizures and extrapyramidal deficits; (3) a late-onset slowly progressive form distinguished from the 2nd pattern by later age of onset (adolescence or adulthood) and a much slower rate of progression. The existence of the 1st and 2nd phenotypes within the same sibship suggests that they are variant expressions of the same clinicopathologic disorder. Niemann-Pick disease type C should be considered not only in infants and children who present with organomegaly and a progressive neurodegenerative course, but also in adolescents and adults who have insidiously progressive neurologic dysfunction and only slight organomegaly. Associated with the disease is a marked deficiency in the ability of cultured fibroblasts to esterify exogenously supplied cholesterol. Assay of this deficiency is particularly useful for confirming the diagnosis in patients with atypical presentation.
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PMID:Clinical spectrum of Niemann-Pick disease type C. 276 97

Delayed neurological deterioration following anoxia is known to result from carbon monoxide exposure. However, it may also occur with anoxia of other types as well. The present report describes a case of delayed postanoxic encephalopathy with bilateral striatal lesions demonstrated by magnetic resonance imaging. A 27-year-old man exhibited anoxic anoxia caused by upper airway obstruction following general anesthesia for shoulder fracture surgery. Initially he was delirious and markedly excited for one day and became apparently normal for the following three days. Then he relapsed into delayed neurological deterioration with speech and gait disturbance, clumsiness of hand, pyramidal signs and metamorphopsia. Thereafter, he became bed-ridden and fell into semicomatose state with marked motor restlessness, involuntary movement of the tongue and decorticate posture. Twenty-five days later he had a second recovery period after hyperbaric oxygenation that lead to the sequelae with speech and motor disturbances and mild mental changes. I examined the present case as an expert witness in a civil suit eleven years after initial anoxia. The patient showed slight intellectual impairment and personality change. Impairment in figure-ground differentiation and disorders of spatial thought were also observed. Neurological examination revealed anisocoria, dysarthria with acquired stuttering, disturbances of fractionated movement of fingers, writer's cramp and Babinski's sign bilaterally. Postural dystonia of both hands and fingers, rigidity and spasticity of all extremities were also present. Magnetic resonance imaging (MRI) showed bilateral lesions of the corpus striatum, especially of the putamen. Some portion of the caudate nucleus was also involved. Cerebral cortices and white matter were slightly atrophic. From the above clinical course and neurological findings, we diagnosed the present case as delayed postanoxic encephalopathy. Ginsberg (1979) noted that in cases of anoxia not related to carbon monoxide, diffuse demyelinative changes of cerebral hemispheral white matter tended to be associated with relapsing clinical course, and gray matter injury was only seen in a few cases. MRI findings in the present case suggest that main site of the lesion to be in gray matter of the corpus striatum. In this respect, the present case is considered to be noteworthy.
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PMID:[A case of delayed postanoxic encephalopathy with bilateral lesions of the corpus striatum]. 281 6

The cases of identical twins with ataxia telangiectasia, early intellectual impairment and progressive spasticity are reported. Immunological tests revealed reduced levels of serum and salivary IgA, increased B cells, reduced T cells and raised alpha-fetoprotein. CT scan performed in one of the twins was normal. The pathogenesis of the spasticity is discussed.
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PMID:Ataxia telangiectasia in identical twins: unusual features. 377 10

The increasing interest in selective posterior rhizotomy for reduction of spasticity in children with cerebral palsy and other neurological disorders comes from the selectivity that this procedure has achieved with intraoperative electromyographic monitoring. Thirty patients were operated on between April 1989 and October 1991. Spasticity was of cerebral origin in 27 cases and secondary to spinal cord lesion in 3 others. A reduction in the abnormally high muscle tone was observed in all cases, mainly in the lower extremities, but also, to a lesser degree, in the upper extremities. All patients showed functional improvements that depended on the individual preoperative condition. Even severely disabled patients with quadriplegia and intellectual impairment, whose spasticity interfered with their daily care, had a significantly improved quality of life after rhizotomy. These patients became much looser, with better swallowing and less drooling, and were much more easily managed by their caretakers. Preliminary results with follow-up from 1 to 30 months indicates that selective posterior rhizotomy is a safe procedure which contributes to significant functional improvement in spastic patients.
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PMID:Selective posterior rhizotomy: experience of 30 cases. 812 76

We describe an identical syndrome of cystic leukoencephalopathy in three Turkish children, including two siblings. The neurological findings were noted within the first months of life and include severe intellectual impairment, motor retardation, and spasticity. Magnetic resonance imaging of the brain showed extensive cysts within the anterior temporal lobes, ventricular enlargement and white matter disease. The signal intensities of the cysts' content were identical to those of the cerebrospinal fluid. The patients' screening for known inborn errors of metabolism, especially those characterised by white matter involvement, did not reveal any abnormality. The clinical picture and the magnetic resonance imaging characteristics are unique diagnostic features of a new disease entity so far not described in the literature.
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PMID:A new leukoencephalopathy with bilateral anterior temporal lobe cysts. 981 May 56

A consanguineous family affected by an autosomal recessive, progressive neurodegenerative Huntington-like disorder, was tested to rule out juvenile-onset Huntington disease (JHD). The disease manifests at approximately 3-4 years and is characterized by both pyramidal and extrapyramidal abnormalities, including chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and intellectual impairment. Brain magnetic resonance imaging (MRI) findings include progressive frontal cortical atrophy and bilateral caudate atrophy. Huntington CAG trinucleotide-repeat analyses ruled out JHD, since all affected individuals had repeat numbers within the normal range. The presence of only four recombinant events (straight theta=.2) between the disease and the Huntington locus in 20 informative meioses suggested that the disease localized to chromosome 4. Linkage was initially achieved with marker D4S2366 at 4p15.3 (LOD 3.03). High-density mapping at the linked locus resulted in homozygosity for markers D4S431 and D4S394, which span a 3-cM region. A maximum LOD score of 4.71 in the homozygous interval was obtained. Heterozygosity at the distal D4S2366 and proximal D4S2983 markers defines the maximum localization interval (7 cM). Multiple brain-related expressed sequence tags (ESTs) with no known disease association exist in the linkage interval. Among the three known genes residing in the linked interval (ACOX3, DRD5, QDPR), the most likely candidate, DRD5, encoding the dopamine receptor D5, was excluded, since all five affected family members were heterozygous for an intragenic dinucleotide repeat. The inheritance pattern and unique localization to 4p15.3 are consistent with the identification of a novel, autosomal recessive, neurodegenerative Huntington-like disorder.
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PMID:Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. 1084 1

We describe here familial dyskinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitious movements that sometimes appear choreiform and that are associated with perioral and periorbital myokymia. We report a 5-generation family with 18 affected members (10 males and 8 females) with FDFM. The disorder has an early childhood or adolescent onset. The involuntary movements are paroxysmal at early ages, increase in frequency and severity, and may become constant in the third decade. Thereafter, there is no further deterioration, and there may even be improvement in old age. The adventitious movements are worsened by anxiety but not by voluntary movement, startle, caffeine, or alcohol. The disease is socially disabling, but there is no intellectual impairment or decrease in lifespan. A candidate gene and haplotype analysis was performed in 9 affected and 3 unaffected members from 3 generations of this family using primers for polymorphic loci closely flanking or within genes of interest. We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine. Our results provide further evidence of genetic heterogeneity in autosomal dominant movement disorders and suggest that a novel gene underlies this new condition.
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PMID:Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 1131 Jun 26


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