bluuebunny/crossref_metadata_2025 huggingface dataset:
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

We 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

Lubag 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

The 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

Fifteen 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

We 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

We 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

The 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

A 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

The 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

Glutaric 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

The 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

Interrater 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

Previous 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

There 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

The 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

Current 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.
Limb dystonia following electrical injury
Authors: Tarsy Daniel , Sudarsky Lewis , Charness Michael E.
Published: December 2004

Electrical injuries of the extremities may cause paralysis, muscle atrophy, sensory deficit, causalgia, and reflex sympathetic dystrophy (RSD). Limb dystonia has rarely been reported following electrical injury to an extremity, although it may result from cerebral hemisphere electrical trauma. Following electrical injury to the upper extremity, three patients developed limb dystonia accompanied by severe pain and sensory symptoms in two patients and features of RSD in one patient. Two patients received botulinum toxin injections without functional benefit. The mechanism of dystonia following peripheral trauma is unknown but may relate to reorganization of central synaptic connections, possibly in the spinal cord.
Autosomal‐dominant dentatorubropallidoluysian atrophy in the United Kingdom
Authors: Warner T. T. , Lennox G. G. , Janota I. , Harding A. E.
Published: December 2004

Dentatorubropallidoluysian atrophy (DRPLA) has been described chiefly in Japan and appears to be rare in Europe. It is of autosomal dominant inheritance. We report the first British family with DRPLA, which contains four affected individuals in two generations. The diagnosis was made at autopsy in one case. The age of onset of symptoms ranged from 15 to 38 years, and clinical features included ataxia, dementia, chorea, and dystonia; three patients had generalized seizures. The three living patients resemble those with early Huntington's disease clinically. Three main phenotypes of DRPLA have been proposed: an ataxo‐choreoathetoid type, a pseudo‐Huntington type, and a myoclonic epilepsy type. The variation in clinical presentation in our family demonstrates the difficulty in applying such classifications to this and other dominantly inherited disorders with phenotypic variation. DRPLA is likely to be confused with Huntington's disease in European families.
Adductor laryngeal breathing dystonia in a patient with lubag (X‐linked dystonia‐parkinsonism syndrome)
Authors: Lew M. F. , Shindo M. , Moskowitz C. B. , Wilhelmsen K. C. , Fahn S. , Waters C. H.
Published: December 2004

We report a patient with Lubag (X‐linked dystonia‐parkinsonism) who presented with severe respiratory stridor form adductor laryngeal breathing dystonia. Emergency tracheostomy was necessary, and subsequent laryngeal injection with botulinum toxin led to worsening aspiration. Botulinum toxin injection for severe lingual dystonia was successful.
Is cranial computerized tomography useful in the diagnosis of multiple system atrophy?
Authors: Wenning G. K. , Jäger R. , Kendall B. , Kingsley D. , Daniel S. E. , Quinn N. P.
Published: December 2004

Cranial computer tomographic (CT) images of 33 patients with multiple system atrophy (MSA) and of 40 age‐matched controls were blindly analyzed by two neuroradiologists. All patients had autonomic dysfunction, all but one had parkinsonism, and 13 had cerebellar signs. The scans were judged entirely normal in 21%. Moderate or severe infratentorial atrophy was found in 42%. Cerebellar atrophy was present in 39%, and pontine atrophy was present in 18%. Of the 13 patients with cerebellar signs, only eight had cerebellar atrophy. Of the 20 patients without cerebellar signs, five had cerebellar atrophy. Supratentorial involvement was much less common and less severe. Thus, CT demonstrated system involvement that was not evident clinically in five of 33 cases (15%). However, in all five the clinical diagnosis was already evident from the presence of both autonomic and pyramidal signs in addition to parkinsonism. We conclude that CT imaging is of limited diagnostic use in individual patients with MSA.
Reliability of symptom onset assessment in Parkinson's disease
Authors: Richards M. , Marder K. , Cote L. , Mayeux R.
Published: December 2004

Test‐retest reliability of onset date and type of initial symptoms of Parkinson's disease (PD) was assessed in 45 patients with PD who were drawn from a community‐dwelling cohort in New York City. Patients were the sole information providers on both rating occasions. Reliability of symptom‐onset data was found to be high, even when the interval between test and retest was up to 3 years and when the information was elicited by different neurologists. However, these patients were less consistent about the type of early symptoms. When interpreting their own disease history, patients with PD may attach more importance to when their disease began than to how it began.
Reversible intermittent rhythmic myoclonus with fluoxetine in presumed pick's disease
Authors: Lauterbach Edward C.
Published: December 2004

A 61‐year‐old man with presumed Pick's disease was successfully treated with fluoxetine for pathological affect. Severe intermittent, rhythmically repetitive trains of myoclonus developed suddenly the following year. A dystonic‐like component involving the shoulder region and a decrescendo frequency pattern were observed. Myoclonus involved the face, palate, shoulder, neck, upper chest and back, diaphragm, hips and upper extremities, especially on the right side. Movements were not influenced by postural adjustments, startle, or other stimuli. Movements proved insensitive to benztropine but abated with discontinuation of fluoxetine. Rechallenge with fluoxetine or trazodone evoked the movements, whereas clonazepam and chloral hydrate abolished the movements. The pattern of myoclonus is unlike previous reported cases and may relate to activation of serotonin 5HT1A receptors (possibly supersensitive in Pick's disease) or to hypodopaminergia. Although fluoxetine may be useful as adjunct therapy in dementing disorders, caution may be warranted in its use in Pick's disease.
The prevalence of parkinsonism in Italy: An epidemiological survey of the disease in general practice
Authors: Beghi E. , Monticelli M. L. , Sessa A. , Simone P. ,   The Italian General Practitioner Study Group (IGPSG)
Published: December 2004

The prevalence and characteristics of parkinsonism have been assessed in two separate geographic areas in Italy (Arcisate and San Giovanni Rotondo). A total of 28, 377 patients of 23 general practitioners (GPs) were the reference population. Fifty‐eight patients were traced by the GP as having typical parkinsonian features or being treated with antiparkinson drugs. Among 53 subjects, 21 of them untreated, parkinsonism was subsequently confirmed neurologically. The overall crude prevalence rate was 1.87 cases per 1,000 (Arcisate 1.81; San Giovanni Rotondo 2.01). The age‐ and sex‐adjusted prevalence rates were 1.84 in Arcisate and 2.04 in San Giovanni Rotondo. After exclusion of drug‐related parkinsonism, the rates were 1.48 and 1.90, respectively. Even with some inconsistencies within the two study areas, the prevalence tended to be higher in San Giovanni Rotondo, to prevail in women, and to increase significantly with age. Presumed etiological factors for parkinsonism were recorded in 34% of the cases (mostly drugs). In two thirds of the cases the disease ran a mild course. The present study shows that the GP proves a valuable reference for surveys of parkinsonism in Italy.
Perturbation of a prehension movement in Parkinson's disease
Authors: Scarpa Marina , Castiello Umberto
Published: December 2004

Movement kinematics of the transport and manipulation components of a double‐step prehension task were studied in eight Parkinson patients and eight control subjects. The aims were to (a) assess the effects of a spatial perturbation upon the movement for the two groups and (b) add data to the controversy about the damage/preservation of predictive behaviour in Parkinson patients. The results showed: (a) Both groups are able to preprogram a movement. (b) In both groups, the perturbation results in an anticipation of all kinematic parameters, both of the transport and manipulation components. (c) Parkinson patients, when adopting a predictive behavior, show a delay between the beginning of the two components, and thus activate them in sequence rather than simultaneously. This delay is significantly reduced by the perturbation, indicating that Parkinson patients, when using a responsive behavior, can recouple the two motor components.
Abnormalities of somatosensory evoked potentials in spasmodic torticollis
Authors: Mazzini L. , Zaccala M. , Balzarini C.
Published: December 2004

This study examined the N20 and N30 waves of somatosensory evoked potentials (SEPs) from median nerve stimulation at three different stimulation rates (1, 3, and 6 Hz) in patients with idiopathic spasmodic torticollis (ST). The data were compared with those collected from a group of patients affected by Parkinson's disease (PD) and normal age‐matched subjects. N30 amplitude was significantly decreased in both groups of patients with respect to the controls. The decrease was larger in patients with ST. The N20 wave remained stable. The latencies of both waves were unchanged. When the stimulus rate was increased, the N30 amplitude decreased significantly, with a similar trend observed in both patients and controls. The isolated abnormalities of the N30 wave in both ST and PD support the hypothesis of a common physiopathogenetic mechanism that involves the basal ganglia or their connections with the supplementary motor area.
Vascular chorea: Case report with pathology
Authors: Bhatia Kailash P. , Lera Gabriel , Luthert Philip J. , Marsden C. David
Published: December 2004

We report a patient with long‐standing systemic hypertension who developed progressive generalized chorea and dementia beginning at 70 years of age with no family history or other features to suggest Huntington's disease. At postmortem examination, congophilic angiopathy and atherosclerosis causing neostriatal neuronal loss and gliosis were found, in addition to plaques and neurofibrillary tangles in the cortex. This case is a rare demonstration of a vascular pathology causing late onset generalized chorea in association with dementia due to Alzheimer's‐type cortical changes.
Parkinsonian syndromes associated with hydrocephalus: Case reports, a review of the literature, and pathophysiological hypotheses
Authors: Curran Terry , Lang Anthony E.
Published: December 2004

We present nine cases of obstructive hydrocephalus (OH) associated with marked parkinsonism. Four patients had noncommunicating OH (NCOH) [three nontumoral aqueductal stenosis (AS), one tumoral AS]. The presentation was that of acute or subacute parkinsonism, usually at the time of acute recurrent ventricular obstruction. Three had a marked response to levodopa and required short‐term treatment after shunting. However, one has remained levodopa dependent after 21/2 years. Three of the five patients with communicating OH (COH) presented with shunt‐responsive normal pressure hydrocephalus (NPH), only later to develop progressive parkinsonism. One of these was found to have progressive supranuclear palsy (PSP) at autopsy and PSP was clinically susepected in one other patient. A third had an atypical course suggestive of PSP; however, autopsy demonstrated the combination of Lewy body parkinsonism and the sequelae of hydrocephalus. The remaining two COH patients presented with levodopa‐responsive parkinsonism. Subsequent clinical features and imaging studies suggested the presence of NPH. The pathophysiology of hydrocephalic parkinsonism probably involves variable sites of dysfunction in the nigrostriatal pathway and/or the cortico‐striato‐pallido‐thalamo‐cortical circuit. At certain locations these pathways lie in close proximity to the ventricular system and may be subjected to mass effects and ischemic changes secondary to ventriculomegaly. The additional importance of possible associations between subcortical cerebral ischemia, NPH, and “degenerative” disorders such as PSP and Parkinson's disease is discussed.
Characteristics of handwriting of patients with huntington's disease
Authors: Phillips J. G. , Bradshaw J. L. , Chiu E. , Bradshaw J. A.
Published: December 2004

Patients with Huntington's disease exhibit poorer‐quality handwriting, sometimes clinically exhibiting macrographia, an increase in the size of handwriting. To characterize deficits in handwriting of patients with Huntington's disease, we compared the writing of 12 young, 12 age‐matched controls, and 12 patients with Huntington's disease. Subjects were asked to write the letter “I” four times, at a constant length, on a graphics table that sampled pen position at 200 Hz. Huntington's disease causes chorea (involuntary movement), akinesia (difficulty in maintatining voluntary movement). To distinguish changes in handwriting quality due to involuntary movement from impairments of voluntary movement, handwriting samples with obvious choreic movements were analyzed separately from other handwriting samples. Several measures of quality of handwriting were considered, based on: the regularity and consistency of handwriting, the efficiency of movement trajectories, and the proportions of movement occurring at specific frequencies. Results suggested that Huntington's disease increases variability of movement parameters, and causes problems in producing smooth movements. Choreic movement was best characterized by the number of zero crossings in the velocity function relative to the prescribed number of writing strokes. We hypothesize that macrographia in Huntington's disease occurs when chorea predominates over bradykinesia. Comparisons were made between the handwriting of patients with Huntington's and Parkinson's diseases.
Visual thresholds to low‐contrast pattern displacement, color contrast, and luminance contrast stimuli in Parkinson's disease
Authors: Haug Bernhard A. , Trenkwalder Claudia , Arden Geoffrey B. , Oertel Wolfgang H. , Paulus Walter
Published: December 2004

We used the computerized Moorfield Vision System to demonstrate specific increases in various perceptual visual thresholds in idiopathic Parkinson's syndrome. Fifteen patients were compared to 13 age‐matched normals. Motion detection was impaired maximally (2p < 0.01 and better in two‐tailed t test) at luminance contrasts of 3–7%. Stimulus was an achromatic vertical 4 cycles/°sine wave grating subtending 3° × 2°, centered 5° in the nasal field and oscillating at 5 Hz. In addition, stationary color and luminance contrast thresholds were tested with flashed display of 5° × 6° random letters, which were presented for 200 ms (color) and 50 ms (achromatic). Color discrimination was impaired in the tritan axis only (2p < 0.05 in two‐tailed t test). All achromatic stimuli–luminance increments, decrements, and phase reversing stimuli–were equally well seen by patients and controls. We conclude that the dopaminergic deficit of retinal amacrine cells in Parkinson patients can be monitored by combined low‐contrast and motion (displacement) stimuli. Future studies will determine if moving colored targets are more effective in discriminating patients from controls than are the achromatic gratings used in this work.
Motor effects of the partial dopamine agonist (−)‐3‐(3‐hydroxyphenyl)‐N‐n‐propylpiperidine (preclamol) in Parkinson's disease
Authors: Metman L. Verhagen , Sethy V. H. , Roberts J. R. , Bravi D. , Hoff J. I. , Mouradian M. M. , Chase T. N.
Published: December 2004

The motor effects of the partial dopamine agonist (–)‐3‐(3‐hydroxyphenyl)‐N‐n‐propylpiperidine [(–)‐3‐PPP, preclamol] were evaluated in nine patients with Parkinson's disease using a double‐blind, placebocontrolled design. (–)‐3‐PPP monotherapy had an antiparkinsonian effect in five of nine patients at a mean dose of 37 ± 10 mg intramuscularly. The co‐administration of (–)‐3‐PPP and a mildly dyskinetic dose of levodopa, infused intravenously at steady‐state, resulted in complete suppression of dyskinesias and reemergence of parkinsonian signs in two of seven patients. These dopamine antagonist effects of (–)‐3‐PPP occurred at relatively low (2.5 and 5 mg) doses. Our results suggest that partial dopamine agonists can exert agonist or antagonist activity in parkinsonian patients depending on concurrent dopaminergic tone. Although this dual action of (–)‐3‐PPP and other partial agonists could be therapeutically important on theoretical grounds, the small number of patients manifesting a clinically significant response and the frequently inconsistent effects could indicate that this class of agents may have relatively limited clinical utility.
“Apraxia of lid opening,” a focal eyelid dystonia: Clinical study of 32 patients
Authors: Krack P. , Marion M. H.
Published: December 2004

We have seen 32 patients with “apraxia of lid opening” (ALO) in the following clinical settings: as an isolated condition (3 patients), idiopathic blepharospasm (BSP, 20 patients, including 4 familial cases), progressive supranuclear palsy (PSP, 7 patients), and dystonic parkinsonian syndrome (2 patients). Twenty‐nine patients treated with botulinum toxin into the orbicularis oculi muscle were rated before and after treatment and 83% of the patients improved on a clinical scale. Best results were obtained with injections directed toward the junction of the preseptal and pretarsal parts of the palpebral orbicularis oculi. Several patients also improved on anticholinergic drugs. Besides medical treatment, lid crutches, in conjunction with botulinum toxin injections, were useful in some patients. ALO is not a true apraxia; it constitutes an eyelid dystonia as shown by its clincal and electrophysiological features as well as pharmacological reactions and is encountered in a clinical spectrum ranging from an isolated from to predominant BSP. It was an important cause of treatment failures in botulinum toxin‐treated BSP but by modifying our injection strategy and by adding anticholinergic drugs and also lid crutches, we obtained a good functional benefit.
Reliability among neurologists in the severity assessment of blepharospasm and oromandibular dystonia: A multicenter study
Authors: Defazio G. , Lepore V. , Abbruzzese G. , Barontini E. , Berardelli A. , Caraceni T. , Carella F. , Girlanda P. , Manfredi M. , Messina C. , Maurri S. , Ferrari E. , Livrea P.
Published: December 2004

The reliability of a scale of 0 to 4 (where 0 is normal) in rating the severity of blepharospasm (BS) and oromandibular dystonia (OMD) was evaluated by the concordance among six neurologists from different neurological institutions. As expressed by k index, interobserver agreement was moderate either for BS or for OMD according to the Landis classification. Neurologists showed different rating attitude towards BS and OMD. In fact, the category analysis showed that raters were inclined to overestimate BS and to underestimate OMD. The familiarity with dystonia influenced reliability more than the length of professional experience in neurology. In fact, when examiners were subdivided into subgroups (each of three raters) according to the former criteria, the level of interobserver agreement increased significantly. Almost perfect agreement was obtained in intrarater comparisons. These results may be of value with regard to the conduct of multicenter epidemiologic and clinical studies on focal dystonias.
Coprolalia in younger patients with Gilles de la tourette syndrome
Authors: Goldenberg James N. , Brown Stuart B. , Weiner William J.
Published: December 2004

The objective of this study was to determine the frequency of coprolalia in younger patients with Gilles de la Tourette syndrome (GTS). Coprolalia, which is the least understood and perhaps most unusual symptom of GTS, is reported to occur in 4–60% of all patients with GTS. Most reports indicate a prevalence >30%. The widely varying prevalence figures for coprolalia may reflect cultural differences, severity of disease, and the age of the population surveyed. This study is a chart review of 112 patients seen in a pediatric neurology clinic in South Florida who met the Diagnostic and Statistical Manual of Mental Disorder (3rd ed., revised) criteria for GTS. Only 8% of the patients in the study exhibited coprolalia. This unusually low frequency of coprolalia suggests that coprolalia may be rarer than previously believed in younger patients. It may also better reflect the frequency of coprolalia in a community‐based pediatric neurology practice.
Cortical myoclonus in huntington's disease
Authors: Thompson P. D. , Bhatia K. P. , Brown P. , Davis M. B. , Pires M. , Quinn N. P. , Luthert P. , Honovar M. , O'Brien M. D. , Marsden C. D. , Harding A. E.
Published: December 2004

We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.
Symptomatic and essential palatal tremor. 2. Differences of palatal movements
Authors: Deuschl G. , Toro C. , Hallett M.
Published: December 2004

Palatal tremor, a rhythmic movement disorder of the soft palate, may be described as two separate entities: symptomatic palatal tremor (SPT) and essential palatal tremor (EPT). The symptomatic form is associated with brain stem or cerebellar disease, whereas the essential form has no known etiology. A cardinal symptom of EPT is the presence of ear clicks, which do not occur in SPT. Visual observation of the movements in the two disorders suggests that the difference in symptoms is due to the activation of different palatal muscles, the levator veli palatini in SPT and the tensor veli palatini in EPT. Electromyographic recording from the levator veli palatini muscle showed abnormal bursting activity time locked to the palatal movements in patients with SPT, but not in those with EPT. Because the two palatal muscles are innervated by different cranial nerves, SPT and EPT are likely to have separate origins.
Does levodopa therapy delay death in Parkinson's disease? A review of the evidence
Authors: Clarke C. E.
Published: December 2004

Studies examining the mortality from Parkinson's disease have been reviewed to assess the impact of levodopa therapy. These include national mortality data taken from death certificate returns, cohort studies compring the deaths observed in a group of patients with those expected from population statistics, and case‐control studies comparing deaths in patients with those in a matched control group. It is concluded that the decrease in crude mortality rate in the early 1970s in several western countries was mirrored by a decrease in observed to expected mortality rates in cohort studies over the same period. The rise in crude mortality in the late 1970s and early 1980s paralleled an increase in observed to expected mortality in cohort studies. These trends are compatible with the hypothesis that levodopa delayed the death of a cohort of frail elderly parkinsonian patients who succumbed ∼5 years later, leading to an apparent “catch‐up” increment in national mortality data. Whilst crude mortality in England and Wales does not appear to be increasing as fast as before the introduction of levodopa, recent cohort and case‐control studies report mortality ratios comparable to those seen in the prelevodopa era. Further case‐control studies are required to determine the position with current treatment regimens.
Abnormalities of tracking behavior in Parkinson's disease
Authors: Hufschmidt Andreas , Lücking Carl‐Herrmann
Published: December 2004

Tracking behavior in Parkinsonian patients and in a control group of elderly subjects was studied using a one‐dimensional pursuit tracking task. The most obvious abnormality in patients with Parkinson's disease is a tendency to restrict movements to a limited range, thus “clipping” the extreme deviations of the target, reflected by movement arrests, reduced amplitude gain, and decreased velocity gain. Most of the tracking parameters were selectively sensitive to parkinsonian as opposed to age‐related impairment of motor functions, the only exception being directional errors, which were more frequent in the old age group. Movement range and amplitude gain were related to general disability as reflected by the Hoehn and Yahr stage. Amplitude gain was also the single factor with the strongest influence on tracking error and was smaller for large target deviations in both groups. A reduction in target velocity caused a significant increase in amplitude gain, suggesting a compensatory strategy (amplitude/lag trade‐off) as one possible cause of low‐amplitude gain. Decreased peak velocity did not contribute significantly to tracking error. These findings suggest that reduced movement amplitude and slowness are independent phenomena, of which only the former has a significant influence on tracking performance in the task used. Patients with Parkinson's disease showed no impairment of motor learning on this task.
The anterior olfactory nucleus in Parkinson's disease
Authors: Pearce R. K. B. , Hawkes C. H. , Daniel S. E.
Published: December 2004

Impaired olfaction occurs in patients with idiopathic Parkinson's disease (PD), and Lewy bodies have been found in the olfactory bulb and tract. We now confirm the latter finding and show that this presence of Lewy bodies is associated with significant neuronal loss. A quantitative study of the anterior olfactory nucleus (AON) was performed in tissue obtained postmortem from seven patients with PD and seven age‐matched controls. Neuronal loss was seen in the PD bulb and tracts (p < 0.01), and a strong correlation of neuronal loss with disease duration was detected (R = −0.87). The presence of Lewy bodies was confirmed with immunocytochemical staining for ubiquitin in all the PD cases.
“Pure” striatonigral degeneration and Parkinson's disease: A comparative clinical study
Authors: Gouider‐Khouja Neziha , Vidailhet Marie , Bonnet Anne‐Marie , Pichon Jacques , Agid Yves
Published: December 2004

Striatonigral degeneration (SND) is difficult to diagnose in vivo. The purpose of this study was to detect the best indicators for an early and reliable diagnosis of the disease. Eighteen patients clinically diagnosed as having SND were selected with rigorous inclusion criteria and compared to 18 patients with Parkinson's disease (PD) matched for age and disease duration. Apart from dysautonomia, the principal discriminant clinical features that distinguished SND from PD were the early appearance of the following symptoms and signs: (a) severe and atypical progressive parkinsonism characterized by bilateral bradykinesia and rigidity, slowness of gait, postural instability, and falls, and poor or absent response to adequate levodopa treatment; (b) increased tendon reflexes associated or not with frank pyramidal signs, severe dysarthria, and less consistently, dysphagia, stridor, antecollis, and stimulussensitive myoclonus, which, when present, are highly suggestive of the disease.