1/11. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 /- 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 /- 8.5 years, and average disease duration was 21 /- 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
2/11. Restoration of locomotion in paraplegics with aid of autologous bypass grafts for direct neurotisation of muscles by upper motor neurons--the future: surgery of the spinal cord?OBJECTIVES: paraplegia means a lifelong sentence of sensory loss, paralysis and dependence. Complete spinal cord lesions cannot heal up to now despite intensive experimental research, remarkable efforts and recent achievements in bio-technology and re-engineering. Traumatic paraplegia due to spinal cord injury (SCI) is a quite frequent condition and related to the socio-economical situation of the population. It is experienced disproportionately by young people. The rise in gunshot wounds is dramatic. SCI has appeared refractory to treatment. patients AND methods: Since 1980 G.A.B. had tried surgical repair of the spinal cord (SC) after experimental bisection in rats, and since 1993 research was done on monkeys (macaca fascicularis) to be closer to human physiology. The sciatic nerve was removed and used as an autologous graft from the lateral bundle of the spinal cord (tractus corticospinalis ventro lateralis) to the three muscles of both legs being known to be most important for locomotion: M. gluteus maximus, M. gluteus medius and M. quadriceps femoris. The first fruitful transplantation in a human being was performed in July 2000. RESULTS: The results in rats were promising and fulfilled the requirements of the American Task Force of the National Institute of Neurological and Communicative Disorders and stroke of the US. The results in monkeys confirmed the paradigm so that we performed the first operation in a young lady suffering for four months from complete SC lesion T9 after approval by the ethical committee. First voluntary movements of the connected muscles after 17 months. 27 months after op she was able to walk up to 60 steps with the help of a walker and to climb steps in the water. Improvement is still continuing. DISCUSSION: SCI has appeared refractory to any kind of treatment. Compensatory strategies are still experimental in human beings. Autologous nerve grafts from the spinal cord tissue (the lateral spinal bundle) connected to peripheral muscle nerves seem promising in paraplegics. But the physiology is still unclear when the glutamatergic upper motor neuron connected to motor end-plates (cholinergic) does work like in our patient. CONCLUSION: Further studies in primates and paraplegic patients are necessary to clarify the bypass grafting of the SC to muscle groups distal to the complete SCI to restore locomotion.- - - - - - - - - - ranking = 2.5912840419183E-5keywords = paralysis (Clic here for more details about this article) |
3/11. Real-time measurement of frozen gait in patient with parkinsonism using a sensor-controlled walker.patients with Parkinson's disease develop gait disturbances. Although the use of walkers is very effective for maintaining locomotive ability, patients who have symptoms such as frozen gait (FG) and festinating gait may fall even with a walker equipped with a brake as they cannot use the brake well in an emergency and fail to follow the accelerating walker. None of the studies on walking aids to date have addressed real-time detection of FG or the use of this information for the control of the walking aid, monitoring of the state of improvement in the ambulatory function, or evaluation of the effect of the use of a walker. In this study, we evaluated whether the state called FG, a characteristic symptom of Parkinson's disease, can be detected by the use of a sensor-controlled walker with heel-to-toe pressure sensors. The following two measurements were carried out in one male healthy and a one male patient with stage 3 Parkinson's disease by the Hoehn-Yahr scale showing mild muscle rigidity, hypokinesia, and FG. In the healthy subject, the heel-to-toe pressure showed smooth heel-to-toe shifts during the standing phase. In the patient with Parkinson's disease, the heel-to-toe response time was about 2.4 times longer than in the healthy subject at the beginning of walking, and FG could be recorded as the difficulty in lifting the foot by the toes. Also, when FG was observed during walking, the pressure waves recorded by the same sensors showed two peaks occurring at short interval, indicating double landings.- - - - - - - - - - ranking = 0.66666666666667keywords = parkinsonism (Clic here for more details about this article) |
4/11. A walking support/evaluation machine for patients with parkinsonism.Various walk supporting systems have been devised and developed. However, they have not been designed for supporting or evaluating the gait of parkinsonian patients, and not much consideration has been given to gait disturbances of parkinsonian patients. In this study: (a) We prepared a tentative model of walk supporting and monitoring system in consideration of typical symptoms of parkinsonism. (b) We conducted gait rehabilitation in a parkinsonian patient using the walk supporting and monitoring system and confirmed (i) the occurrence of frozen gait during walking, (ii) brachybasia, (iii) the absence of anterior tilting of the posture, pulsion symptom, and festination, and (iv) occurrence of hesitation to start walking. Therefore, typical symptoms of parkinsonism can be detected by the use of this system. (c) The medical staff can evaluate the state of recovery of patients on the basis of the data obtained from this system and use them for purposes such as guidance of rehabilitation.- - - - - - - - - - ranking = 1.3837516732053keywords = parkinsonism, parkinsonian (Clic here for more details about this article) |
5/11. A case of Arnold-Chiari syndrome with flaccid paralysis and huge syringomyelia.STUDY DESIGN: A case report. SETTING: Department of Orthopaedic Surgery, Shiga University of Medical science, japan. PATIENT: A 13-year-old woman presented progressive weakness in the lower extremities, with predominance on the right. Magnetic resonance (MR) imaging revealed a huge syrinx. The patient also showed scoliosis, cleft palate, hearing impairment, excessive sweating, hairiness, dural ectasia, and malformation of the skull. METHOD AND OBJECTIVES: We treated a very rare case of Arnold-Chiari syndrome, which presented with flaccid paralysis. methods of differential diagnosis and suitable treatment are discussed. RESULTS AND CONCLUSION: Both the syrinx and muscle strength were quickly improved following placement of a syringo-peritoneal (S-P) shunt, after which the patient recovered the ability to walk. However, transient hypesthesia in the right hand occurred after the operation. The syrinx around the conus was thought to play a crucial role in the etiology of the patient case, which showed unique symptoms.- - - - - - - - - - ranking = 0.00012956420209592keywords = paralysis (Clic here for more details about this article) |
6/11. levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and cataract. We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. The present cases are illustrative of a phenotypic heterogeneity in the same family of spastic paraplegia with a thin corpus callosum, despite the identical neuroimaging findings, and also presented another form of autosomal recessive juvenile levodopa-responsive parkinsonism.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
7/11. Primary lateral sclerosis presenting parkinsonian symptoms without nigrostriatal involvement.We encountered three patients with primary lateral sclerosis (PLS) showing bradykinesia, frozen gait, and severe postural instability, as well as slowly progressive spinobulbar spasticity. Cranial magnetic resonance (MR) imaging showed precentral gyrus atrophy. Central motor conduction was markedly prolonged or failed to evoke a response. Positron emission tomography (PET) showed significant reduction of [18F]fluoro-2-deoxy-D-glucose uptake in the area of the precentral gyrus extending to the prefrontal, medial frontal, and cingulate areas. No abnormalities were seen in the nigrostriatal system with PET using [18F]fluorodopa or [11C]raclopride or with proton MR spectroscopy. Thus, widespread prefrontal, medial, and cingulate frontal lobe involvement can be associated with the parkinsonian symptoms in PLS.- - - - - - - - - - ranking = 0.63958612200879keywords = parkinsonian (Clic here for more details about this article) |
8/11. Levetiracetam-induced parkinsonism in a huntington disease patient.The authors present a man with huntington disease who was treated with levetiracetam (Keppra) in an effort to reduce chorea. chorea was markedly reduced, but the patient developed parkinsonism and lethargy after 6 weeks of treatment. Symptoms consisted of resting tremor, rigidity, increased dystonia, and gait difficulty. Side effects from levetiracetam resolved completely within 7 days of levetiracetam discontinuation, and chorea returned to baseline.- - - - - - - - - - ranking = 0.83333333333333keywords = parkinsonism (Clic here for more details about this article) |
9/11. Functional recovery of chronic complete idiopathic transverse myelitis after administration of neurotrophic factors.STUDY DESIGN: Case report. OBJECTIVE: To evaluate the functional recovery of chronic complete idiopathic transverse myelitis (ITM) after administration of acidic fibroblast growth factor (aFGF). methods: A 28-year-old woman presented with a 4-year history of spastic paralysis, sensory level at T10, urinary retention and constipation due to ITM. In all, 20 microg aFGF bolus injection was applied via intradural lumbar puncture, which was repeated every 5 months for 15 months. RESULTS: At 3 weeks after first injection, the patient experienced vague sensation at approximately T12-L1 dermatomes. At 2 months after the second injection, muscle activities and gait pattern were recorded in bilateral gluteus and hip abductors as she ambulated with long leg brace and axillary crutches. Increased walking speeds, reduced pelvic tilting and reduced compensatory trunk rotation during the swing phase were also demonstrated as compared to the initial gait analysis. At 18 months after injection, motor evoked potentials were obtained in hip abductors of both legs. CONCLUSIONS: aFGF may increase the efficacy of spinal reactivation/regeneration and is a potential remedy for chronic transverse myelitis.- - - - - - - - - - ranking = 2.5912840419183E-5keywords = paralysis (Clic here for more details about this article) |
10/11. manganese-induced Parkinsonism in a patient undergoing maintenance hemodialysis.We report a rare case of manganese (Mn)-induced parkinsonism in a patient on maintenance hemodialysis therapy who complained of gait disturbance and dysarthria. His symptoms and abnormal magnetic resonance imaging (MRI) findings of the brain were thought to be caused, at least in part, by long-term ingestion of a health supplement (chlorella extract) that contained 1.7 mg of Mn in the usual daily dose. Elevated serum and cerebrospinal fluid Mn levels were detected, and brain MRI showed areas of abnormal intensity in the bilateral basal ganglia (low intensity on T1-weighted images and high intensity on T2-weighted images). edetic acid infusion therapy dramatically improved the MRI abnormalities, after which his symptoms gradually improved 4 months later.- - - - - - - - - - ranking = 0.16666666666667keywords = parkinsonism (Clic here for more details about this article) |
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