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)

1. Between 1965 and 1974 146 patients with unexplained tetraspasticity were admitted and examined. In 123 cases extended neuroradiologic examination with myelography of the cervical spinal canal was carried out. A space occupying lesion was found in 59 cases: narrow spinal canal, protruding discs. In 64 cases no pathologic processes were seen radiologically. Comparison of both groups: no differences in clinical signs, history or findings. 2. Tetraspasticity alone was the leading sign in 30 cases. The legs were always more severely involved than the upper limbs. In 70% spasticity was more severe on the right. Further clinical analysis depends on additional signs, particularly paresthesiae, pain, disturbed joint-sense. Among the patients with protruding discs heart-and circulatory insufficiency is a little more common, but in the group without protrusion exogenous/endogenous metabolic conditions(intoxication, malabsorption) and neoplasms. -Protein content of CSF is raised equally in both groups, particularly albumin. This is probably due to reduced circulation of CSF. In 6 patients an internal hydrocephalus was found. 3. No single active causative factor could be found nor any familial relationship. In spite of increasingly extended diagnostic techniques no underlying condition could be discovered. Tetraspastic is a "polygenetic" reaction of the central nervous system without a final common path. The cases show that mechanical factors (cervical myelopathy) predispose locally to non-mechanical injuries.
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PMID:[Unexplained tetraspasticity in adults (author's transl)]. 58 67

Our objective has been to trace Joseph's disease to its geographic origins and to determine the spectrum of clinical manifestations. This goal we have achieved by documenting type I and II disease within the Joseph and Sousa families. The major neuropathologic findings are a progressive neuronal loss involving the striatum, nigra, dentate nucleus of the cerebellum, and lower motor neurons in the brainstem and spinal cord. The homozygote form of the disease produces type I disease with onset in early childhood of progressive dystonia, athetosis, and spasticity. Type I disease tends to have its onset by age 25 years in heterozygotes and lasts about 15 years on the average. Type II disease, which we consider the result of a single dose of the mutant gene, usually begins somewhat later and runs its course over a 20-year period. Type III disease documented in the Thomas family is the most benign. Its onset is often in the fifth decade, and it progresses slowly into the eighth decade. Patients may benefit from antiparkinson medication including dihydroxyphenylalanine and anticholinergic agents (e.g., amantadine). A molecular marker for the disease is being sought actively, and several interesting patterns have already been documented by means of patient fibroblast cultures and two-dimensional acrylamide gel protein separations. The mutant gene is clearly outside the HLA complex but may be linked to it. The only biochemical change noted thus far is a reduced CSF level of HVA that probably reflects the loss of dopamine-synthesizing neurons in the substantia nigra and is thus a secondary effect of disease. Although the disease is a very old one which we can trace back to the early 19th century on the island of Flores, it may be recurring de novo by new gene mutations at an unstable gene locus in a genetically vulnerable population. Now that the spectrum of clinical expression has been identified and the mode of inheritance established as an autosomal dominant wherever the disease has been found, it is believed that its true incidence will become more evident by virtue of better detection and that the true incidence will actually increase because of increased assimilation of affected persons into other ethnic groups.
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PMID:Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. 73 30

A rare case of intramedullary schwannoma of the spinal cord has been reported, The patient was a 30-year-old woman, who began to notice weakness in her right leg approximately 6 months prior to admission, followed 4 months later by numbness and weakness of the right arm. The above symptoms were progressively getting worse, and she was admitted to Hokkaido University Hospital on February 23, 1974. Neurological examination revealed slow speech, bilateral horizontal nystagmus, absent gag reflex and weakness of right trapezius muscle. Spasticity was noted in 4 extremities, in addition to right hemiparesis. All deep tendon reflexes were hyperactive, right more than left, with bilateral Hoffmann's and Babinski's signs. Vibration sense was diminished below the level of bilateral iliac crests. A tumor around the foramen magnum was suspected, however plain skull and neck, laminogram of cervical spines, vertebral arteriogram, fractional pneumoencephalogram and myodil myelogram failed to disclose abnormalities. Manometric Queckenstedt test showed a partial block on flexion, with CSF protein of 56 mg/dl. Air myelogram clearly visualized the presence of an intramedullary tumor at the level of the medullo-spinal junction. Subtotal removal of the intramedullary tumor at C1 was performed, which proved to be a schwannoma histologically. 14 such cases are reported in the literature and summarized on Table I, including our case. Clinical features of tumors around the foramen magnum are fairly complexed, and some radiological examinations might not be conclusive. It is stressed that air myelogram is extremely valuable in the diagnosis of lesions around the foramen magnum.
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PMID:[A case of intramedullary spinal schwanoma (author's transl)]. 98 97

A male patient developed leg numbness and weakness, and bowel, bladder, and erectile dysfunction. Examination revealed an isolated thoracic myelopathy, with lower-extremity spasticity, decreased vibration and position sense, hyperreflexia, and Babinski's signs. Serum and CSF showed antibody reactivity to human T-cell lymphotropic virus type I or II (HTLV-I/II), suggesting HTLV-I-associated myelopathy. Antibody reactivity to a unique HTLV-I recombinant protein provided definitive diagnosis of HTLV-I infection.
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PMID:HTLV-I-associated myelopathy in a Californian: diagnosis by reactivity to a viral recombinant antigen. 170 92

Preclinical data indicate that the administration of the amino acid L-threonine increases glycine levels in rat spinal cord. In order to investigate glycinergic mechanisms in spasticity, and other signs of the upper motor syndrome, we gave 4.5 and 6.0 g/day of L-threonine to 18 patients with familial spastic paraparesis (FSP) according to a double-blind, crossover protocol. The response to treatment at the end of each 2-week period was based upon three measures: the physician's global impressions; the patients' global impressions; and semiquantitative ratings of strength, muscle tone, DTRs, walking, hopping, and running. Blood and CSF were collected during each treatment period for amino acid analyses. Based upon the severity rating scales, there was a statistically significant (p less than 0.02) decrease in motor impairment and spasticity during L-threonine administration compared to placebo treatment; significant treatment effects were not found on the physician's and patients' global impressions. Plasma and CSF levels of threonine increased significantly during L-threonine treatment but glycine levels did not change. These data indicate that L-threonine significantly suppressed the signs of spasticity even though the benefits were not clinically valuable.
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PMID:L-threonine in the treatment of spasticity. 174 49

A 63-year-old man developed muscular atrophy and weakness in his four extremities since 1983, and was pointed out to have smoldering ATL by elevated HTLV-1 antibody titers in the serum (x 2,500) and CSF (x 32) in 1985. Neurological examinations revealed proximal muscular weakness and atrophy of four extremities, and mild spasticity of both legs. Deep tendon reflexes were hypoactive in both arms and hyperactive in both lower extremities with ankle clonus and bilateral positive Babinski and Chaddock reflexes. These findings were compatible with HAM. His gait, however, was markedly waddling, requiring support. Muscle biopsy at left biceps muscle revealed inflammatory change with rimmed vacuoles, small group atrophy, and marked type 1 fiber predominance. These findings on muscle biopsy are different from those of previously reported cases with HAM, showing some similarities to inclusion body myositis or distal myopathy with rimmed vacuole.
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PMID:[A case of HTLV-1 associated myelopathy and adult T-cell leukemia, presenting unique muscle pathology including rimmed vacuole]. 180 70

This study is intended to alert the clinician to the insidious symptoms of baclofen overdose, its prevention and treatment. In a group of 43 patients suffering from previously intractable spasticity and a total treatment time of 2,422 weeks, 7 events of intrathecal baclofen overdose happened in 5 patients. On two occasions, a bolus injection caused an overdose (dose 50 and 280 micrograms). The 5 events during continuous infusion intoxication only happened in high dosed patients. The overdose symptoms occurred in one patient when she was lying in supine position (800 micrograms/24 h), in another patient after repair of CSF leakage by an autologous epidural bloodpatch (1,920 micrograms/24 h) and in tolerant patients, once during maximal dose adjustments (2,400 micrograms/24 h) and twice ca. 6 hours following reinitiation of the intrathecal baclofen infusion after a "drug holiday" treatment (27 and 55 micrograms/h). We could not confirm the reported similarity of baclofen overdose with the anticholinergic syndrome. Especially, the bradycardia and hypotension are more in accord with the reported clinical picture of oral baclofen overdose. In the absence of a pure baclofen antagonist and the varying symptoms of intrathecal baclofen, intoxication make rational treatment difficult. We observed that the advised physostigmine therapy is not always effective and safe. The occasionally doubtful antidotal benefits of physostigmine must be weighted against major side-effects. The classical approach of decreasing the absorption of a drug by lowering baclofen levels in the CSF by lumbar puncture drainage was successful. This approach together with conservative symptomatic treatment in an intensive care environment is probably a better and safer alternative than physostigmine alone as an antidote.
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PMID:Intrathecal baclofen overdose: report of 7 events in 5 patients and review of the literature. 188 14

Ten patients with severe spasticity were evaluated according to a standardized protocol in order to be treated by intraspinal baclofen. Entry criteria in the protocol were the following: 1) Stable central nervous system lesion, 2) Severe spasticity and/or flexo-extensor spasms not controllable by oral treatment, 3) Normal CSF circulation and 4) Informed consent. All patients received a test dose of twenty-five micrograms of baclofen injected intrathecally. At intervals of at least one day, doses were increased in 10-25 microgram steps until total abolition of spontaneous spasms was achieved in complete spinal cord lesions. In patients with residual motor function, doses were titrated until the optimal dose was found that reduced spasms and enabled performance of maximum daily life activities according to the patient's neurological level. In nine patients a multidose reservoir was implanted to deliver intrathecal baclofen. Effective dosage was 60 +/- 31 micrograms in the entire group. Ashworth score was reduced from 4.6 +/- 0.7 to 1.2 +/- 0.4 (mean +/- SD) (p less than 0.0001) and spasms from 3.2 +/- 0.8 to 0.2 +/- 0.4 (p less than 0.0001). Follow-up of the nine patients in whom a reservoir was implanted has been 18 +/- 9 months. Initial dosage requirements and tolerance were significantly different in complete (Frankel's A grade) or incomplete lesions (Frankel's B, C and D grades). Complete spinal cord lesions required a greater initial dose (156 +/- 43) than incomplete lesions (44 +/- 24), these differences being statistically significant (Student's t-test, p less than 0.05). Tolerance was observed only in patients with complete motor and complete sensory lesions. In incomplete lesions, dose increase was insignificant.
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PMID:Intraspinal baclofen in the treatment of severe spasticity and spasms. 192 10

A 60-year-old female was admitted because of intermittent fever, arthralgia, itching of whole body, pretibial edema, urinary incontinence, pain of both legs and gait disturbance, after an insect bite. On admission, she had fever of 38 degrees C, and nuchal pain and stiffness. Neurological examination revealed spasticity of lower legs and increased deep tendon reflexes of all extremities. Hyperesthesia and hyperalgesia were noted on C2-4 and L5-S5 areas. Leukocyte count was 10,100/mm3 and CRP was 2+. CSF showed no pleocytosis (3/mm3, lymphocyte), but total protein (50 mg/dl) and IgG (10.5 mg/dl) were increased. On T2-weighted images of brain MRI, multiple small high signal areas were shown. The symptom improved markedly by prednisolone, but 3 months later left lateral gaze palsy appeared abruptly. A demyelinating lesion of the pons to the medulla oblongata including the left paramedian pontine reticular formation was suspected, and a corticosteroid pulse therapy was very effective. Serum titer of anti-Borrelia burgdorferi-IgG antibody by indirect immunoperoxidase method was 400 x at first and 1600 x after 3 months. Neuroborreliosis was diagnosed, but high doses of intravenous penicillin were not effective, and an immune-mediated demyelinating mechanism was probably thought to play a role in the pathogenesis of neuroborreliosis.
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PMID:[Encephalomyelitis with elevated serum antibody against Borrelia burgdorferi]. 236 35

A deficiency of dihydrobiopterin synthesis was found in a 27-year-old man with mild mental retardation, rigid spasticity, hyperreflexia, dystonia, myoclonus, and delay in the initiation of action, since age 10. Symptoms improved after sleep. Urine contained large amounts of neopterin and a trace of biopterin. Dihydropteridine reductase activity in red blood cells was normal. CSF levels of HVA and 5-HIAA were low. Tetrahydrobiopterin administration lowered serum phenylalanine and improved the symptoms.
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PMID:Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. 243 82


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