Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 63-year-old woman with a progressive illness which began as a parkinsonian syndrome with bilateral rest tremor, limb rigidity and a gait disorder followed by cognitive decline, visuomotor apraxia and visual agnosia. She died 10 years after the onset of the illness and at autopsy the brain showed characteristic changes of progressive multifocal leukoencephalopathy (PML) with the presence of the JC virus confirmed by in situ hybridisation. Neuropathology also showed some unusual features in the form of atypical linear lesions at the cortico-white matter junction. Some of these lesions were active while others were inactive and similar to the rarely described "burnt out" lesions of PML. PML can in rare cases occur without an underlying immune disorder or malignancy (primary PML) and a parkinsonian syndrome can be produced by a predominantly white matter disorder.
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PMID:Primary progressive multifocal leukoencephalopathy presenting as an extrapyramidal syndrome. 886 94

We report a 70-year-old man with progressive gait disturbance and gaze palsy. The patient was well until summer of 1991 when he was 66-year-old, when he noted a gradual onset of difficulty in gait and looking downward. He was evaluated in our hospital in May, 1994 when he was 69-year-old. On admission, he was alert but markedly demented with disorientation and memory loss. Constructional apraxia and dressing apraxia were noted. He had difficulty in gaze to all directions; he could move his eyes only 20% of the normal range. Oculocephalic response was retained. He had small voice and some dysphagia. Other cranial nerves were unremarkable. He could not walk unsupported. Marked retropulsion was noted in which he would fell down spontaneously upon standing unless supported. Moderate to marked rigidity was noted in the neck, trunk, and in the legs, however, in the upper extremities, rigidity was only mild. No tremor was noted. Deep reflexes were symmetrically exaggerated with ankle clonus bilaterally. Plantar response was flexor. Sensation was intact. Routine laboratory tests were unremarkable, however, his cranial MRI showed moderate to marked fronto-temporal atrophy and moderate midbrain and pontine tegmental atrophy. The third ventricle was markedly dilated. He was discharged for out patient care, however, his dysphagia had become progressively worse, and he suffered from frequent bouts of pneumonia. He was admitted to our service on October 17, 1994. His neurologic examination was essentially similar except that he showed more advanced dementia. He was still able to stand with support. Gastrostomy was placed on October 25. Post-operative course was unremarkable. He was discharged on November 1. His motor disturbance showed gradual deterioration, and by the May of 1995, he became bed-ridden, and was admitted to another hospital on May 30, 1995. He was almost totally unable to move his eyes, but oculocephalic response was still elicited. Marked truncal and limb rigidity were noted. He vomited coffee-ground substance on October 31, 1995, and developed hypotension. The subsequent course was complicated by pneumonia and he expired on November 24. The patient was discussed in a neurological CPC. Majority of the participants thought that the patient had progressive supranuclear palsy, but some participants thought that the patient had corticobasal degeneration because cortical atrophy was so marked. Post mortem examination revealed atrophy of the frontal and parietal lobe. The brain stem was atrophic particularly in the tegmental area including the midbrain. The substantia nigra showed marked neuronal loss and globose type neurofibrillary tangles in the remaining neurons. The neurons in the locus coeruleus was well retained, however neurofibrillary tangles were seen. In addition, the cerebellar dentate nucleus, the inferior olivary nucleus, and the internal globus pallidus showed marked neuronal loss and neurofibrillary degeneration. In the frontal cortex, although macroscopic examination showed some atrophy, microscopic examination failed to show neuronal loss or gliosis. The pathologic findings were consistent with the diagnosis of progressive supranuclear palsy.
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PMID:[A 70-year-old man with a progressive gait disturbance and gaze palsy]. 902 10

We studied 45 non-demented patients with Parkinson's disease (PD), 12 with progressive supranuclear palsy (PSP), 10 with multiple system atrophy (MSA) and 12 with neuroleptic-induced parkinsonism (NIP) for the presence of apraxia. Our aim was to determine whether a standard comprehensive assessment of different praxic functions would demonstrate specific types of errors not attributable to bradykinesia, rigidity, tremor or any other abnormal elementary motor deficit. PD patients on chronic levodopa treatment were examined in the 'on' and 'off' (treatment) states. Based on apraxia assessment scores, bilateral ideomotor apraxia for transitive movements was found in eight (75%) and 12 (27%) of PSP and PD patients, respectively. Ideomotor apraxia was mainly characterized by spatial errors (i.e., external and internal configuration, body-part-as-object and trajectory). Four PSP but no PD patients exhibited ideomotor apraxia for intransitive movements. PSP as well as PD patients with ideomotor apraxia also had difficulties in imitating hand and finger postures, but none of them failed on pantomime comprehension and pantomime recognition/discrimination. Some PSP patients exhibited, in addition, a limbkinetic type of apraxia and a minority of them displayed deficits on tasks involving multiple steps. Neither MSA nor NIP patients showed any disturbance of praxic functions. There were no differences in age, disease duration, Mini Mental State Examination (MMSE), Unified Parkinson's disease Rating Scale and Hoehn-Yahr scores between apraxic and non-apraxic PD patients, and ideomotor apraxia scores were similar in the 'on' and 'off' states. A correlation was found between ideomotor apraxia scores in PD patients and deficits in frontal lobe-related neuropsychological tasks such as the Tower of Hanoi, verbal fluency and the Trail Making Test. Furthermore, PD patients with apraxia showed higher Hamilton depression scores than non-apraxic PD patients. In PSP patients, ideomotor apraxia scores correlated significantly with cognitive deficit as measured with MMSE. The presence or absence of cortical involvement, and its severity and distribution might determine the presence and type of apraxia in PD and PSP. Apraxia in these conditions would therefore reflect combined cortico-striatal dysfunction.
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PMID:Apraxia in Parkinson's disease, progressive supranuclear palsy, multiple system atrophy and neuroleptic-induced parkinsonism. 905 99

A common observation in neurological practice is parkinsonism with concomitant cognitive decline, an association that usually arises from various underlying degenerative or vascular conditions, most of which are untreatable. An elderly woman with no history of psychiatric disease presented complaining of memory and cognitive impairment serious enough to interfere with daily life activities over the preceding year. She soon developed a predominantly left-sided tremor, rigidity and bradykinesia. She had had only 2 years of formal education. Neuropsychological assessment showed poor performance on Wechsler memory scale sub-items, as well as constructional apraxia, dyscalculia, reasoning difficulties and gross information deficits. A 3-month trial course of levodopa was followed by dramatic improvement in both parkinsonian symptoms and cognitive performance, including a 7-point gain in the Mini-Mental Status Examination score. At the same time, the Beck Depression Inventory score fell from 27 (baseline) to 18. Over the 10-year follow-up period the patient developed late levodopa syndrome and a persistent but mild dysthymic disorder, but never manifested dementia as defined by DSM-III-R criteria. This patient's case illustrates three important principles. First, although parkinsonism is known to be preceded by depressive episodes, particularly in a subgroup of younger patients, the symptoms of the elderly patient whose Parkinson's disease is foreshadowed by depression can mimic depressive pseudodementia, potentially leading to diagnostic confusion. Second, impaired motivation and disturbances in cognitive function are different from mood disorders, as the former involve the mesolimbic/mesocortical dopamine system, explaining the beneficial effect of levodopa on motivation and cognition in this patient even as mood was unaffected. Finally, depressive pseudodementia in Parkinson's disease does not necessarily herald the development of organic dementia in the long term.
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PMID:[Depressive pseudodementia in early Parkinson's disease: lessons from a case with long-term follow-up]. 919 54

We conducted electrophysiological studies in two Asian patients with probable corticobasal degeneration (CBD). The duration of illness from onset was 16 and 20 months, respectively. The clinical manifestations were markedly asymmetric and characterized by cortical sensory loss, apraxia, action myoclonus, action tremor, and akinetic-rigid parkinsonism. Neither patient responded to levodopa therapy. Simple photon-emission computed tomography (SPECT) study showed significantly decreased regional cerebral blood flow in the frontoparietal areas and thalamus opposite to the predominantly affected limb. A series of electrophysiological studies failed to identify giant somatosensory evoked potentials (SEPs), enhanced long latency electromyography (EMG) reflex, and cortical spikes preceding myoclonic jerk. However, the earliest cortical component of the median nerve SEP was exclusively enlarged in one patient and preserved with depression of the subsequent components in the other patient. Significantly shorter postmotor-evoked potential (MEP) silent period was found after the transcranial magnetic stimulation of the motor cortex in both patients. CBD is a unique clinical entity characterized by action myoclonus probably the result of the pathologic hyperexcitability of the motor cortex, based on a loss of inhibitory input from the sensory cortex.
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PMID:Electrophysiological studies of early stage corticobasal degeneration. 945 39

A 66-year-old man with clinically diagnosed corticobasal degeneration was studied electrophysiologically. The patient had bilateral forced grasping, rigidity, bradykinesia and hyperreflexia which were predominant on the right side, motor aphasia, constructional apraxia, forced laughing, dysequilibrium and myoclonus of the right upper extremity. Several anti-parkinsonism drugs were ineffective. Brain MRI revealed cortical atrophy of the fronto-temporo-parietal lobes with left predominance. On single photon emission computed tomography, cerebral blood perfusion was decreased, especially on the left side in the fronto-temporal lobes, basal ganglia and thalamus. Myoclonus was distal dominant, worse on action or posture, and was rhythmic, mimicking a tremor. On surface EMG recording of the myoclonus, agonist and antagonist muscle pairs were activated simultaneously and rhythmic activities with frequencies ranging from 7 to 8 Hz were seen. The patient had an enhanced C reflex with a relatively short latency (41.0 ms) after median nerve stimulation only at the right wrist. Additionally, during voluntary contraction, the time-constant EMG silence lasting for about 80-90 ms followed the C reflexes. On somatosensory evoked potentials (SEPs) to the median nerve stimulation, N20 latencies were normal and P25 and N33 amplitudes were not giant. There was no premovement corticat spike when a jerk-locked averaging method was used. Regarding motor evoked potentials (MEPs) elicited by magnetic brain stimulation, central motor conduction times were normal. The estimated cortical delay between the arrival of a somatosensory volley and the motor cortical discharge responsible for C reflex was 1.0 ms, which was shorter than those (3.1 +/- 0.9 ms) estimated in five patients with typical cortical reflex myoclonus. A conditioning stimulation (C) of the right median nerve produced marked facilitation of MEPs following magnetic stimulation of the left motor cortex, at conditioning-test intervals (C-T intervals) of 20-22 ms, whereas a conditioning stimulation of the left median nerve did not produce the same effect. These C-T intervals were thought to be very short, considering that N20 latency was 19.6 ms in this patient. The duration of the EMG silence following the C reflex corresponded to that of the EMG silence between muscle activities during his rhythmic myoclonus, and also the myoclonus was reset by occurrence of the C reflex. These electrophysiological findings indicate that his myoclonus was based upon the enhancement of direct sensory input from the thalamus to the motor cortex. Moreover, it is suggested that the existence of the time-constant EMG silence following the C reflex was related to the myoclonal rhythm.
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PMID:[Electrophysiological study of a case of clinically diagnosed corticobasal degeneration with rhythmic myoclonus]. 950 71

This open pilot study was performed to evaluate the effect of Lamotrigine (LTG) in girls with Rett syndrome (RS) regarding seizure frequency, effect on gross motor dyspraxia and safety. Twelve girls with either the classical form of RS or the milder form fruste variants were included. The effect on epilepsy was evaluated as seizure frequency, motor performance (video comparison) and safety at clinical check up. The dosage of LTG was individualized and related to concomitant anti-epileptic drugs. Two of three girls with epilepsy responded relatively well to treatment, and for one of them even bad tantrums disappeared. LTG was useful in another four girls who became happier, more alert, more able to concentrate, and improved in contacting. Only mild adverse reactions as rash and tremor were seen. It is concluded that LTG could be worth trying as an adjunct in girls with RS, being aware of possible adverse reactions and no effect at all.
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PMID:Lamotrigine in Rett syndrome: treatment experience from a pilot study. 956 14

We prospectively studied motor symptoms in 32 patients with CT- or MRI-proven acute pure parietal stroke. A transient, mild, 'pseudoparesis' of the hand (90%), was noted, improved by visual attention and prompting, associated with non-awareness of muscle power (53%), transient soft pyramidal signs (50%), unilateral akinesia (100%) and motor hemineglect (37%) in non-dominant lesions. Lower motoneurone-type atrophy was not observed in this acute phase. We called 'poikilotonia' the striking unpredictable variations in muscle tone, ranging from extreme hypertonia to hypotonia, found in all patients. When maintaining postures, patients showed large oscillations (100%), laterodeviation or levitation of the arm (60%), especially in the case of large or posterior lesions, or, occasionally (3%), motor persistence or even hemicatalepsy (3%). Limb kinetic and manipulatory apraxia, with inadequate organization and anticipation of motor sequences and synergies, motor arrests, perplexity, unrecognizable gestures and loss of bimanual coordination, was a constant finding (100%). Other apraxias (62%) and difficulty in copying intransitive gestures of the hand (84%) were associated with posterior lesions involving the supramarginal gyrus. When reaching towards objects, all patients showed abnormal anticipatory hand shaping, but visuomotor ataxia (3%) was only seen with bilateral posterior stroke. Sensory (70%) or pseudocerebellar (4%) ataxia, was seen in both anterior and posterior lesions. Avoidance behaviors (34%) were not uncommon, but had no localizing value. Of the dyskinesias, hand dystonia (84%) was frequent, but athetosis (16%), asterixis (15%), postural tremor (15%), myoclonus (9%) and stereotypia (9%), were uncommon. The abnormal eye movements were unilateral hypo-akinesia of exploratory saccades (43%), abnormal ipsilateral pursuit and contralateral optokinetic nystagmus in the case of posterior lesions, and oculomotor apraxia with bilateral posterior lesions. In conclusion, parietal motor syndrome can be recognized during bedside examination, and probably reflects the loss of multiple sensory feedback to motor programs, especially those directed to the extrapersonal space.
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PMID:Parietal motor syndrome: a clinical description in 32 patients in the acute phase of pure parietal strokes studied prospectively. 987 53

We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.
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PMID:Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen. 1007 26

Cocaine abuse is a well known cause of cerebrovascular complications. An inflammatory vasculopathy hypothesis has been proposed, but the medical literature has only reported a few pathological confirmations. We report a case with a biopsy demonstrating cerebral inflammatory vascular changes that are associated with cocaine abuse. A 21-year-old male, a twice weekly cocaine abuser, developed encephalopathy, apraxia and left hemiparesis with hemisensory loss during the first week after his last cocaine intake; postural tremor and dystonia appeared later. Laboratory data were unrevealing. Cerebral angiography showed a lack of vascularization in the left precentral and central arterial groups. A corticomeningeal cerebral biopsy demonstrated perivascular cell collection and transmural lymphomonocytic infiltration of the small cortical vessels. All symptoms improved with corticosteroid treatment, but 4 years later, the patient returned with a worsening of his encephalopathy and a severe memory impairment, emotional lability and apraxia. A cerebral magnetic resonance image (MRI) showed subcortical and periventricular lesions suggesting ischemic damage in small-size vessel areas as well as cortical atrophy. This new case supports the existence of an encephalopathy associated with vascular inflammatory changes in a cocaine abuser, although more clinical and experimental data are necessary to define its physiopathology.
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PMID:Encephalopathy and biopsy-proven cerebrovascular inflammatory changes in a cocaine abuser. 1021 Aug 20


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