bluuebunny/crossref_metadata_2025_split huggingface dataset:
The syndrome of gait ignition failure: A report of six cases
Authors: Atchison P. R. , Thompson P. D. , Frackowiak R. S. J. , Marsden C. D. 
Published: December 2004

AbstractThe syndrome of gait ignition failure is described in six patients in whom difficulty initiating walking was the major symptom. The gait had elements of parkinsonism with start and turn hesitation, shuffling, and freezing. Unlike parkinsonism, however, the gait was relatively normal once entrained; the posture was upright, and good arm swing, a normal stride length, and no festination were seen. Equilibrium was normal or near normal, and when seated or lying, rhythmic leg movements were generated normally. Facial expression, upper limb mobility, and whole body movements were wellpreserved. This gait disorder differed from that seen in Parkinson's disease and the so‐called “frontal” or “senile” disorders of gait and gait “apraxia”. The causes of this gait syndrome are not clear but it may be due to frontal lobe vascular disease and/or focal degeneration of the frontal lobes.
Orofacial dystonia and rest tremor in a patient with normal brain pathology
Authors: Bhatia K. , Daniel S. E. , Marsden C. D. 
Published: December 2004

AbstractWe report a patient with cranial dystonia who also had rest tremor of one arm and who developed drug‐induced parkinsonism on treatment. The patient's brain was normal on autopsy. We also review the findings in the few reported cases of cranial dystonia with pathology.
Linkage analysis with chromosome 9 markers in hereditary essential tremor
Authors: Conway D. , Bain P. G. , Warner T. T. , Davis M. B. , Findley L. J. , Thompson P. D. , Marsden C. D. , Harding A. E. 
Published: December 2004

AbstractHereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32–34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were − 19.5 for ASS and − 10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.
Interactive video conferencing: A means of providing interim care to parkinson's disease patients
Authors: Hubble Jean P. , Pahwa Rajesh , Michalek Debra K. , Thomas Calvina , Koller William C. 
Published: December 2004

AbstractInequity in health care delivery is attributable to a variety of factors including geographic isolation. Patients living far from major urban centers have limited access to medical specialists. In the instace of Parkinson's disease (PD), optimal assessment and care may depend upon availability of specialty health care providers. In order to broaden health care access, interactive video conference (IVC) units are being developed for medical use. IVC allows a patient at a distant site to be “seen and heard” by a hospitalbased physician; simultaneously, the patient can “see and hear” the doctor. To establish the validity of this technology in the evaluation of PD, nine patients were independently examined and scored (UPDRS) by two movement disorder specialists. One examination was performed in‐person by the usual physician. The other examination was performed on the same day via IVC over a distance of 350 miles by an examiner previously unfamiliar with the patients. Individual patient scores did not differ based on examiner (Spearman Rho Correlation Coefficients: UPDRS total scores r = 0.933, p < 0.0002; Hoehn and Yahr Scale r = 0.883, p < 0.001). A standardized exit interview was conducted to assess patients' perceptions of this application of video technology. Responses were favorable and virtually all patients viewed this as a means of accessing better health care. We conclude that valid motor assessments of PD patients can be made via IVC.
Hemidystonia symptomatic of primary antiphospholipid syndrome in childhood
Authors: Angelini L. , Rumi V. , Nardocci N. , Combi M. L. , Bruzzone M. G. , Pellegrini G. 
Published: December 2004

AbstractWe report three children with hemidystonia in whom anti‐cardiolipin (aCL) antibodies were demonstrated. Systemic lupus erythematosus was excluded on the basis of both clinical and serological criteria, and the diagnosis of primary antiphospholipid syndrome (PAPS) was made. In two cases, aCL antibodies could be causally related to a presumed immune‐mediated thrombotic event involving the basal ganglia as shown by magnetic resonance imaging (MRI). In the remaining patient the finding of white matter alteration on NMR might be due to cross‐reactivity of anti‐phospholipid (aPL) antibodies with cerebral phospholipids, resulting in demyelination. We suggest that PAPS must always be considered when isolated or recurrent focal cerebral ischaemia, and particularly hemidystonia, occur in childhood.
Neuropathology of lubag (x‐linked dystonia parkinsonism)
Authors: Waters C. H. , Faust P. L. , Powers J. , Vinters H. , Moskowitz C. , Nygaard T. , Hunt A. L. , Fahn S. 
Published: December 2004

AbstractLubag is an x‐linked recessive dystonia parkinsonism that affects Filipino men originating principally from the Panay Island. Linkage analysis has confirmed the mode of inheritance and localized the disease gene to the proximal long arm of the x‐chromosome. We studied the brain of a 34 year old Filipino man affected with lubag. He developed truncal dystonia at age 30, which subsequently generalized. With disease progression, he also presented with parkinsonism including, rigidity, bradykinesia, and impaired balance. His symptoms were largely unaffected by medication and, at age 34, he underwent a right cryothalamotomy. He died suddenly 2 days after the procedure. The principal neuropathological findings were neuronal loss and a multifocal mosaic pattern of astrocytosis restricted to the caudate and lateral putamen. Similar findings have been reported in two other men with dystonia–one Filipino and the other non‐Filipino. The similar pathology of the two Filipino men suggests that this is the pathology of lubag. Recognition of this pathology in a non—Filipino man suggests that the mutation causing lubag may not be restricted to the Filipino population.
The opiate antagonist naloxone suppresses a rodent model of tardive dyskinesia
Authors: Stoessl A. Jon , Polanski Elizabeth , Frydryszak Hanna 
Published: December 2004

AbstractThe effects of both opiate agonists and the opiate antagonist naloxone were examined in a rodent model of tardive dyskinesia (TD). Chronic (˜20 weeks) administration of fluphenazine resulted in the emergence of vacuous chewing mouth movements (VCMs), a response which may be a useful model for this disorder. Fluphenazine‐induced VCMs were not affected by a variety of selective opiate agonists administered intracerebroventricularly, but were potently suppressed by subcutaneous administration of the opiate antagonist naloxone. These findings suggest that increased opiate transmission may contribute to the pathogenesis of TD. Further investigation of the role of opiate antagonists in treating this disorder are warranted.
Use of botulinum toxin type F injections to treat torticollis in patients with immunity to botulinum toxin type A
Authors: Greene Paul E. , Fahn Stanley 
Published: December 2004

AbstractFifteen patients with torticollis who had been treated with repeated injections of botulinum toxin type A (botox A) developed antibodies to the toxin. This resulted in loss of benefit in the 13 patients who had improved with botox A injections and failure to develop muscle atrophy after injection in all 15 patients. Patients were then injected with botulinum toxin type F (botox F) in the same muscles that had been injected with botox A. Ten of the 15 improved after botox F injections, including 9 of the 12 patients who had improved with type A toxin. Six of 9 patients with pain had improvement in pain after botox F injections. Patients reported similar improvement with type F and type A toxins, but duration of benefit was ˜3 months with type A and ˜1 month with type F. Botox F is an effective treatment for torticollis in patients who are immune to botox A. The usefulness of type F toxin, however, is limited by short duration of benefit.
Therapeutic trial of milacemide in patients with myoclonus and other intractable movement disorders
Authors: Gordon Mark Forrest , Diaz‐Olivo Rolando , Hunt Ann L. , Fahn Stanley 
Published: December 2004

AbstractWe performed a therapeutic trial with the glycine precursor, milacemide, on 10 patients with intractable movement disorders. Six had myoclonus of various etiologies and one each had progressive supranuclear palsy, Filipino X‐linked dystonia with parkinsonism, painful legs and moving toes, and stiff‐person syndrome. Milacemide was initiated at a dose of 2,400 mg/ day, orally, and increased gradually to a maximum of 4,800 mg/ day. No clear‐cut observable improvement occurred. There were no serious adverse effects.
Adult onset familial cervical dystonia: Report of a family including monozygotic twins
Authors: Uitti Ryan J. , Maraganore D. M. 
Published: December 2004

AbstractWe report the first family with adult onset cervical dystonia in which monozygotic twins and multiple family members are affected. In this family, the disease exhibits an autosomal dominant inheritance pattern, and all affected members have only cervical dystonia. Five members have definite cervical dystonia, and five others have possible cervical dystonia. Although identical genotypically, the twins demonstrate some phenotypic variation. Despite long follow‐up, no family members have shown progression from focal to generalized dystonia. This family may prove valuable in identifying a gene locus for cervical dystonia and hence determine whether a single gene locus exists for hereditable focal dystonia and generalized dystonia.
Blink reflex and the masseter inhibitory reflex in patients with dystonia
Authors: Pauletti G. , Berardelli A. , Cruccu G. , Agostino R. , Manfredi M. 
Published: December 2004

AbstractThe excitatory and inhibitory interneuronal pathways in the brainstem are tested by examining the blink reflex and the masseter inhibitory reflex, respectively. We studied the R2 component of the blink reflex and the SP2 component of the masseter inhibitory reflex and their recovery cycle in 56 patients with various forms of dystonia. In patients with cranial, cervical, and generalized dystonia, but not in patients with extracranial segmental dystonia, the recovery cycle of both reflexs was enhanced. The recovery cycle of R2 and SP2 can demonstrate subclinical changes in excitability of brainstem interneurons. The degree of enhancement of the recovery cycles did not correlate, however, with the severity of clinical facial muscle impairment. In addition, the recovery cycles correlated positively with each other, showing that excitatory as well as inhibitory interneuronal pathways in the brainstem are perturbed in dystonia. Study of the trigemino‐facial and trigemino‐trigeminal reflexes provides an objective tool for assessing functional abnormalities in dystonia.
A case of symptomatic hemidystonia improved by ventroposterolateral thalamic electrostimulation
Authors: Sellal FrançOis , Hirsch Edouard , Barth Pascal , Blond Serge , Marescaux Christian 
Published: December 2004

AbstractA 16‐year‐old boy presented with a left anterothalamic lesion secondary to an extradural hematoma. A few months later, a right hemidytonia developed. The dystonic posture, which predominated in the right hand, was not associated with any motor deficit or sensory loss. Superficial sensory stimulation of the right palm and forearm and proprioceptive stimuli induced by passive movements of the right thumb decreased the dystonic posture. Electrical stimulation of the left ventroposterolateral nucleus of the thalamus induced a dramatic inprovement in the dystonic postures and movement of the upper right limb. This finding suggests that the role of tactile and proprioceptive stimulation should be analyzed in patients presenting with a symptomatic hemidystonia. When such sensory stimulation is effective, thalamic stimulation may be tried in patients whose condition is incapacitating.
The syndrome of painful legs and moving toes
Authors: Dressler D. , Thompson P. D. , Gledhill R. F. , Marsden C. D. 
Published: December 2004

AbstractThe clinical presentation, symptoms, and signs in 20 new patients with the painful legs and moving toes syndrome are presented. Painful legs and moving toes may develop in the setting of spinal cord and cauda equina trauma, lumbar root lesions, injuries to bony or soft tissues of the feet, and peripheral neuropathy. In 4 of the 20 cases in the present study, no definite cause was found. Pain preceded the onset of toe movements in 18 cases, but in 2 the reverse sequence occurred. The pain had many of the characteristics of causalgia, but none of the patients exhibited the full picture of reflex sympathetic dystrophy, and peripheral trauma was the trigger in only 5 cases. Several patients reported that the occurrence of toe movements was closely related to the pain, although abolition of pain with lumbar sympathetic blocks was not necessarily associated with disappearance of the movements. Several features suggest a central origin for the movements. Symptoms may begin one side and become bilateral; movements may be momentarily suppressed by voluntary action or exacerbated by changing posture; and electromyography reveals complex patterns of rhythmic activity with normal recruitment of motor units involving several myotomes. Three other patients with similar moving toes but no pain are also described. The occurrence of similar movements in the absence of pain raises the possibility that these cases represent examples at one end of a spectrum of disorders, with pain alone (causalgia) at the other end and the syndrome of painful legs and moving toes in between. Common precipitating factors are peripheral tissue, nerve, or root injury, which may lead to alterations in afferent sensory information with subsequent reorganisation of segmental or suprasegmental efferent motor activity. The altered sensory input may result in pain, abnormal efferent motor activity, or both via segmental or suprasegmental sensorimotor circuits.
Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
Authors: Kyllerman M. , Skjeldal O. H. , Lundberg M. , Holme I. , Jellum E. , von Döbeln U. , Fossen A. , Carlsson G. 
Published: December 2004

AbstractGlutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.
Portable device for quantifying parkinsonian wrist rigidity
Authors: Caligiuri Michael P. 
Published: December 2004

AbstractThe need for objectivity in the assessment of parkinsonism prompted the development of a portable transducer capable of quantifying muscular rigidity. This paper describes the development and use of a device for measuring wrist rigidity and reports the preliminary findings from 25 normal healthy controls and 29 patients, many of whom were undergoing antiparkinsonian treatment to alleviate rigidity or antipsychotic treatment, which produced parkinsonian rigidity. An objective rigidity score, representing the degree to which motor activity increases muscular stiffness in the wrist, correlates highly with clinical ratings of parkinsonian rigidity and demonstrates 89% specificity and 82% sensitivity. Unlike previous techniques for quantifying rigidity, this transducer offers greater portability and apparent face validity.
Interrater reliability of the unified Parkinson's disease rating scale motor examination
Authors: Richards Marcus , Marder Karen , Cote Lucien , Mayeux Richard 
Published: December 2004

AbstractInterrater reliability of the Unified Parkinson's Disease Rating Scale (UPDRS) motor examination was assessed by three neurologists experienced in the administration of this scale. Intraclass correlation coefficients indicated good‐to‐excellent agreement for speeded repeated movements, resting tremor, arising from a chair, and gait; moderate agreement for action tremor, rigidity, posture, postural stability, and bradykinesia; and poor agreement for speech disorder and facial immobility. Overall, these results indicate that satisfactory interrater reliability is attainable with the UPDRS motor examination.
Increased levels of lipid hydroperoxides in the parkinsonian substantia nigra: An HPLC and ESR study
Authors: Dexter David T. , Holley Anne E. , Flitter William D. , Slater Trevor F. , Wells F. Raymund , Daniel Susan E. , Lees Andrew J. , Jenner Peter , Marsden C. David 
Published: December 2004

AbstractPrevious studies examining the involvement of oxidative stress in the substantia nigra in Parkinson's disease have measured terminal products of lipid peroxidation or the function of antioxidant defense systems. We report a more specific early marker of lipid peroxidation, lipid hydroperoxides, in a high‐performance liquid chromatography (HPLC) and electron spin resonance (ESR) investigation. HPLC‐chemiluminescent detection revealed two classes of lipid hydroperoxides in brain tissue extracts–free fatty acid hydroperoxides and cholesterol lipid hydroperoxides. Only cholesterol lipid hydroperoxides were consistently detected in all tissue extracts. Cholesterol lipid hydroperoxides had a 10‐fold increase in the Parkinson's disease substantia nigra compared to control subjects. ESR detection of radical degradation products, including those of lipid hydroperoxides, in nigral homogenates incubated with the spin trap N‐t‐butyl‐α‐phenyl nitrone (PBN) showed a marked variation in ESR signal between tissues. Despite the increased levels of lipid hydroperoxides in parkinsonian substantia nigra, there was no overall difference in ESR signal intensity between nigral tissues from controls and from patients with Parkinson's disease. The increased levels of an early component of the peroxidation chain in substantia nigra in Parkinson's disease support the hypothesis of a continuous toxic process involving oxygen radical activity. However, using previously frozen tissue, ESR evidence for increased radical formation could not be demonstrated.
Evidence for mitochondrial dysfunction in Parkinson's disease—a critical appraisal
Authors: Schapira A. H. V. 
Published: December 2004

AbstractThere is now considerable evidence to support a defect of the mitochondrial respiratory chain, and complex I in particular, in Parkinson's Disease (PD). However, the site specificity of the defect within the chain, its anatomical selectivity within the brain, and its presence in other tissues still remain controversial. Much of the present confusion surrounding the mitochondrial defect can be dispelled by careful analysis of the available data. The molecular basis of the deficiency and its relevance to the pathogenesis of PD remain unknown. Nevertheless, the complex I deficiency in PD provides a direct biochemical link between the idiopathic disease and the MPTP toxin model. The relationship between the mitochondrial defect and other abnormalities within the PD substantia nigra suggests that a self amplifying cycle of events might be precipitated either by a genetic or environmentally induced abnormality of mitochondrial function or free radical metabolism. Alternatively, a biochemical event separate from these might precipitate a cascade which terminates in complex I dysfunction and free radical formation. An understanding of the molecular basis of the complex I defect in PD and its relationship to other biochemical changes will provide important insight into the potential chain of events that lead to dopaminergic cell death in PD.
Exteroceptive reflexes in dystonia: A study of the recovery cycle of the R2 component of the blink reflex and of the exteroceptive suppression of the contracting sternocleidomastoid muscle in blepharospasm and torticollis
Authors: Carella Francesco , Ciano Claudia , Musicco Massimo , Scaioli Vidmer 
Published: December 2004

AbstractThe recovery cycle of the R2 component of the blink reflex and the exteroceptive suppression of EMG activity in the contracting sternocleidomastoid muscle produced by electrical stimulation of the supraorbital nerve were studied in normal subjects and in patients with either blepharospasm or torticollis. The latencies of the reflexes were normal, suggesting that the neural structures that mediated them were intact. However, the recovery of the R2 component of the blink reflex was enhanced in patients with either blepharospasm or torticollis. Also, the size of the exteroceptive suppression of the sternocleidomastoid muscle was reduced in both groups of patients. Our results are indicative of abnormalities of interneurons mediating exteroceptive reflexes in patients with craniocervical dystonia that are not restricted to the systems controlling the muscle involved in the dystonia.
Symptomatic relief from treatment‐induced psychosis in Parkinson's disease: An open‐label pilot study with remoxipride
Authors: Mendis Tilak , Mohr Erich , George Amanda , Rusk Ilene N. , Gray Peggy , Grimes J. David 
Published: December 2004

AbstractCurrent treatment strategies for levodopa‐induced psychosis in Parkinson's disease have had limited success. Remoxipride, a selective D2 receptor antagonist, was administered in an open label pilot study to seven parkinsonian patients exhibiting thought disorder. Symptoms improved significantly in six patients after treatment durations of 1–6 months and cleared completely in two individuals. One patient (at age 90 the oldest in the group) could not tolerate the compound due to significant motor deterioration, and the drug had to be discontinued after 1 week. In all remaining patients, no motor complications appeared, and therapeutic effects of remoxipride continued for up to 3 months after treatment cessation and have lasted for 2 years now in one individual. Further study of this compound in the context of treatment‐induced psychosis in Parkinson's disease appears to be warranted.