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)

Rehabilitation services for the severely brain injured are often inadequate and one of the chief factors responsible is undue emphasis on the contribution of physical disability with scant attention to the serious emotional and intellectual handicaps incurred. Weakness, spasticity and dysphasis tend to recover eventually to a variable extent but mental handicap is often the cause of serious and lasting disablement. For a determination of the outcome of severe brain injury in terms of its effect on daily living, the relation between physical disability, mental handicap and social reintegration has been assessed quantitatively. Three assessment scales have been constructed and used in a study of 58 severely brain damaged patients. This revealed that the duration of post-traumatic amnesia correlates highly with the degree of social, mental and physical disability incurred. Daily living was affected primarily by impairment of intellect and personality and, to a lesser extent, by physical incapacity, but only rarely by the developments of symptoms of mental illness. Using the Wechsler Adult Intelligence Scale, the time course of cognitive recovery was also assessed. Recovery curves and the relation of cognitive impairment to social and physical handicap will be demonstrated.
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PMID:Assessment of the psychosocial outcome after severe head injury. 104 90

Of 23 children with hereditary spastic paraplegia (HSP), spasticity was the only neurological abnormality in eight patients (pure form). Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo-bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the pure form and five years in the complicated form. These forms were distinguished at a mean age of 11 years. Early non-motor developmental delay or rapidly ascending paraparesis, with spread of spasticity to the arms and with involvement of bulbar structures, predicted development of the complicated form. The pure form was inherited in an autosomal dominant manner in five patients. The autosomal recessive form was commonly associated with additional neurological abnormalities and a more rapid rate of progression.
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PMID:'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. 204 52

The neurosurgical role in rehabilitation rehabilitation was studied. Over a 5-year period, 850 individuals were referred to a rehabilitation center after initial acute care. Surgery was indicated for 66 patients. There were 28 quadriplegic or paraplegic individuals with intractable spasticity. Percutaneous radiofrequency foramenal rhizotomies were found to be 98% effective in relieving posttraumatic spasticity. In 14 patients with cognitive impairment, intellectual improvement had reached a plateau level. These persons underwent computed tomography scanning and cisternography, revealing significant communicating hydrocephalus. After surgical shunt therapy, cognitive improvement was noted in 86%. Nineteen individuals were sent for rehabilitation following spine fracture or progressive quadriplegia; 17 were found to have persistent spinal instability requiring surgical stabilization by fusion. This was successful in all cases without complications. Two persons required decompressive spinal operations, resulting in neurological stabilization or improvement. Five patients developed pain, spasticity, ascending neurological deficit, or autonomic dysreflexia due to posttraumatic syrinx. These symptoms were stabilized or improved following syringosubarachnoid shunting. The authors submit that comprehensive neurosurgical reevaluation is desirable in patients received for rehabilitation. Periodic neurosurgical follow-up is recommended. The neurosurgeon's role is not limited to the acute process.
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PMID:Rehabilitative neurosurgery. 370 90

Nine patients with clinically diagnosed, radiologically supported primary lateral sclerosis underwent cognitive testing. None was demented, but eight had mild cognitive impairment. Performances were most consistently impaired on neuropsychological tests sensitive to frontal lobe functions, followed by tests sensitive to memory. Cognitive testing may be useful in helping to establish a cortical localization in patients with the syndrome of progressive spasticity. There are potential nosologic relations between primary lateral sclerosis and other degenerative frontal lobe syndromes, such as frontal lobe dementia and progressive spasticity with dementia.
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PMID:Primary lateral sclerosis: a neuropsychological study. 750 Nov 49

Autosomal dominant cerebellar ataxia type I was diagnosed in three unrelated families from Martinique (French West Indies), and linkage to the locus for spinocerebellar ataxia 2 (SCA2) was established. Neuropathological findings in two patients were those of olivopontocerebellar atrophy without oligodendroglial cytoplasmic inclusions. Cerebellar ataxia was associated with hyporeflexia in 68% of 31 examined patients, with slowed and/or limited eye movements in 65% and with dementia in 29%. No patients had optic atrophy, pigmentary retinal degeneration, spasticity or parkinsonism. Mean age at onset was 33 +/- 16 years, and onset before the age of 20 years was correlated with a more rapid and severe course of the disease. Movement disorders, oculomotor disturbances, sphincter disturbances and cognitive impairment were significantly more frequent in early than in late onset patients. This explains why the phenotype was strikingly different in one family, in which mean age at onset was much earlier. Comparison with previously described SCA2 families indicated similarities, such as reduced saccade velocity, supranuclear ophthalmoplegia and decreased reflexes, although phenotypic heterogeneity remains the outstanding feature of this disorder.
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PMID:Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. 859 86

We report a familial form of Creutzfeldt-Jakob disease, associated with a unique insert mutation of the PRNP gene in an American family of Ukrainian origin. Ten family members exhibited early age at onset and long-duration illnesses characterized primarily by personality changes, cognitive impairment, and spasticity. The proband, presenting at age 42 years, exhibited a fairly stable, nonprogressive course over 7 years, followed by precipitous decline and death in the eighth year. Other affected family members exhibited marked clinical heterogeneity. Each tested affected member had an insert mutation consisting of five extra octapeptide repeats between codons 51 and 91 of the PRNP gene on chromosome 20. Examination of two autopsy cases showed classic spongiform change, neuronal loss and astrocytosis in one case, and minimal pathologic abnormality in the other case. This report documents a new insert mutation of the PRNP gene, and confirms the early age of onset, characteristically prolonged clinical course, and clinical and pathologic heterogeneity seen in such mutations.
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PMID:Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. 879 71

Lesch-Nyhan syndrome is a rare, x-linked, recessive disorder of purine metabolism resulting in hyperuricemia, spasticity, choreoathetosis, dystonia, self-injurious behavior, and aggression, without significant cognitive impairment. Anesthetic management of inpatients who demonstrate classic manifestations of Lesch-Nyhan syndrome and require surgical interventions have been described. There are no guidelines in the literature addressing the anesthetic management of the outpatient with Lesch-Nyhan syndrome. Specifically, sudden, unexplained death, abnormalities in respiration, apnea, severe bradycardia, and an increased incidence of vomiting and chronic pulmonary aspiration may preclude this patient population from receiving anesthesia for outpatient procedures. General anesthesia with spontaneous ventilation was performed for diagnostic, radiographic imaging in 11 outpatients with Lesch-Nyhan syndrome using intravenous propofol. A bolus dose of 1.5 to 2.0 mg/kg propofol was followed by maintenance doses of 60 to 160 mcg/kg/min. Results during and following sedation indicated end-tidal carbon dioxide ranges between 34 mmHg and 59 mmHg. Respiratory rates were never below 10 breaths/min and no partial/complete airway obstruction or labored breathing was clinically evident. Hemodynamics were within 30% of presedation values. No patient demonstrated nausea, vomiting, or pulmonary aspiration. Baseline neuropsychologic status was achieved following sedation, and patients were discharged from the hospital 35 to 90 minutes after sedation was completed. Potential risks and benefits of using propofol in this patient population are discussed.
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PMID:Use of propofol anesthesia during outpatient radiographic imaging studies in patients with Lesch-Nyhan syndrome. 905 48

Information on the long-term development of larger series of children with non-progressive congenital ataxia (NPCA) is scarce. We have updated a personal cohort of subjects previously diagnosed as having NPCA. Children with brain malformations, acquired neurological illness, or defined syndromes were excluded. From 58 subjects, 34 were available for review (including three pairs of siblings). All our subjects had delayed motor and speech development. Truncal ataxia persisted but became less significant. Two subjects developed spasticity and three a focal dystonia. Epilepsy was a feature in 10 of the subjects. Cognitive impairment was present in 22 of 34 subjects. MRI was normal in 15 of 27. There were no obvious correlations between degree of motor delay, severity of ataxia, cognitive impairment, and neuroimaging. Although genetically and clinically not a homogeneous entity, NPCA is a helpful diagnostic label. Major problems arise in the majority of subjects related to cognitive impairment and less to neurological symptoms. Early individual prognosis is not possible from early developmental milestones, neurological signs, or neuroimaging.
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PMID:Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. 956 49

We report linkage of a family affected with autosomal dominant hereditary spastic paraparesis (HSP) and/or cognitive impairment to the HSP locus on chromosome 2p. To date all families linked to this locus have been affected with 'pure' HSP. The specific pattern of cognitive impairment in this family is characterised primarily by deficits in visuo-spatial functions. We also present genetic studies that indicate variable expression and low or delayed penetrance. We have constructed a haplotype flanked by polymorphic markers D2S400 and D2S2331 that was present in 12 individuals affected with spastic paraparesis. The severity of spasticity varied markedly among these individuals. In addition four of these individuals (aged 62-70) also had a specific form of cognitive impairment. The disease haplotype was also present in an individual (age 57) who had an identical pattern of cognitive impairment as the only sign of the disease supporting the hypothesis that spastic paraparesis and cognitive impairment are the result of variable expression of a single gene (rather than a co-incidental occurrence). Haplotype reconstruction for all participating family members revealed the presence of this disease haplotype in six individuals who had normal neurological and neuropsychological examinations. All six are below the maximal age of onset in the family--60 years. This is evidence for low or late penetrance of the AD HSP gene in this family. The identification of normal individuals carrying the disease haplotype demonstrates the importance of genetic studies in combination with clinical examination when counselling at risk family members.
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PMID:Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. 978 Oct 32

Familial British dementia (FBD) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, spasticity, and cerebellar ataxia. Hippocampal neurofibrillar degeneration and widespread parenchymal and vascular amyloid deposits are the main neuropathological lesions. Amyloid fibrils are composed of a novel 34 amino acid subunit (ABri) with no sequence identity to any known amyloid molecule. The peptide derives from a larger precursor protein codified by a single gene BRI on chromosome 13. Affected family members have a single base substitution at the stop codon of the BRI gene that generates a longer open-reading frame resulting in a larger precursor protein. The release of the 34 C-terminal amino acids from the mutated precursor originates the ABri amyloid subunit. Our discovery of a new amyloid associated with the development of dementia supports the concept that amyloid peptides may be of primary importance in the initiation of neurodegeneration.
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PMID:A newly formed amyloidogenic fragment due to a stop codon mutation causes familial British dementia. 1081 98


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