Symptomatological rubral tremor caused by vertebral-basilar artery embolism]

Rubral tremor is a distinct clinical entity as described by Gorden Holmes. We have reported here a 44 years old woman with rubral tremor appearing about 2 months after an embolic attack of vertebral-basilar artery. On neurological examination there were left homonymous hemianopsia, dysarthria very mild weakness of left upper and lower limbs with clumsiness of her left lower limb and the tremor of the left upper limb. Muscle tone was increased in her left upper limb with dystonic posturing. The tremor of her left upper limb was present at rest with regular rhythm of 2.8 Hz. This tremor included the reciprocal movements such as radial and ulnar flexion of the left wrist and independent movements of different fingers. It was accentuated by postural adjustment and by guided voluntary movements and disappeared during sleep. Surface EMG demonstrated that the grouping discharge was seen not only alternatingly but also synchronously between agonists and antagonists. A brain MRI image revealed multiple lesions including right thalamus and left cerebellum. No lesions were detected in brain stem. On the basis of MRI, it was questionable whether the lesion involved the dentate nucleus in the left cerebellum although the lesion was located at the medulla near the dentate nucleus extending from the cortex. So-called rubral tremor could be generated in lesions of cerebello-rubro-thalamic system without rubral lesion itself.     

MRI findings in a patient with multiple sclerosis and "hyperkinésies voltionnelles" as a main symptom

A 23-year-old female was admitted to our hospital complaining of tremor in the upper extremities and gait disturbance. Beginning at age 18, this patient experienced tingling of the right fingers, gait disturbance, dysesthesia of both hands, and tremor in the upper extremities. These symptoms disappeared several weeks after each onset. At age 21, gait disturbance and coarse tremor in the upper extremities developed. They were exaggerated and occurred repeatedly. On neurological examination, the right optic disc was slightly pale. She had nystagmus in all directions with ocular movements. Deep tendon reflexes were hypoactive throughout. There was no tremor in the upper extremities at rest, but during the voluntary movements especially in maintaining certain posture coarse tremor developed. When performing goal-directed motion, such as finger-nose test, the tremor became worse near the terminal position. The patient's gait was broad-based, with the trunk trembling. There were no sensory disturbances, dysarthria, or bowel or bladder dysfunction. Laboratory studies were normal except for high IgG% in the cerebrospinal fluid. An electromyogram using surface electrodes recorded rhythmic bursts of about 4c/s, alternating between the extensor and the flexor muscles of the right arm. MRI of T2-weighted images showed many high-intensity areas located around the bilateral ventricles and near the area of the decussation of superior cerebellar peduncle. A diagnosis of multiple sclerosis was made in this case based on the patient's history of illness and MRI findings. The tremor in her right upper extremity was too intense and coarse to be described as tremor, and should better be called "hyperkinésies volitionnelles (HV)".(ABSTRACT TRUNCATED AT 250 WORDS)     

Three siblings with type 3 GM1-gangliosidosis--pathophysiology of dystonia and MRI findings

GM1-gangliosidosis is a rare neurovisceral storage disease caused by an inherited deficiency of acid beta-galactosidase. The characteristic neurological feature of type 3 (adult or chronic) GM1-gangliosidosis is usually a slowly progressive dystonia with dysarthria due to predominant involvement of basal ganglia. About 20 adult patients with this disorder have been reported in the literature. However, there are no reports of 3 brothers with type 3 GM1-gangliosidosis, and MRI findings. Case 1 (proband): A 28-year-old man was hospitalized because of facial grimace, dysarthria, and generalized dystonia. He was born after normal pregnancy and delivery. His development was normal until 3 years of age when the difficulties of speaking and walking were noticed by his parents. These neurological abnormalities progressed slowly and facial grimace and dystonic movements occurred 7 years later. He could not walk at 22 years of age. On admission, he was bedridden with marked scoliosis and subluxation of the mandibule. The communication was possible only by pointing the words written on the board. Case 2: A 33-year-old man, elder brother of case 1, showed the similar neurological features and clinical course. Slit-lamp examination revealed corneal opacities which were located in the deep stroma. Case 3: A 33-year-old man, elder brother of case 1 or case 2. At age 10-11, he noted similar symptoms as case 1 or case 2. The severity of dystonia was milder than his brothers. A diagnosis of GM1-gangliosidosis in three patients was made on the basis of the following data.(ABSTRACT TRUNCATED AT 250 WORDS)     

A case of chronic toluene intoxication presenting stimulus-sensitive segmental spinal myoclonus]

We reported a 48-year-old male who showed stimulus-sensitive spinal myoclonus due to chronic toluene intoxication. He has been exposed to thinner for more than 30 years as a painter, and occasionally experienced an episode of headache, nausea and dizziness because of acute thinner intoxication. He noted tremor of his hands 10 years ago. He also noticed memory disturbance since the end of 1997. Neurological examination revealed postural tremor of his fingers on the bilateral sides and the left arm. In addition, rhythmic myoclonic jerks were induced in the right upper limb muscles by a tendon tap given on the right brachioradialis muscles. Surface EMG revealed repetitive grouping discharges in those two muscles approximately 100 msec after the tendon tap which continued for about 30-50 msec. A long loop reflex (C-reflex) and giant SEPs were not observed in his right upper limb, and EEG showed no spike. Urinary excretion of N-benzoylglycine, which was a metabolite of toluene was increased (1.17 g/l). Therefore, he was diagnosed as a case of chronic toluene intoxication. His myoclonic jerks were considered to be stimulus-sensitive spinal myoclonus, because they were induced segmentally and because cortical hyperexcitability was not seen. This is the first report to describe the occurrence of stimulus-sensitive spinal myoclonus in the case of chronic toluene intoxication.     

An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.     

A case of mortor neuron syndrome with onset 9 months after electrical injury]

A 72-year-old man noticed progressive weakness of both upper limbs, more severe on the left side, 9 months after an electric shock of a 20,000 V alternating current. He had diffuse scars of superficial burns with skin graft in four limbs, more on the right side. A neurological examination revealed diffuse muscle atrophy, weakness and fasciculation in both upper limbs, predominantly on the left side, hyper-reflexia in four limbs with mildly exaggerated jaw jerk, left Babinski sign, and mild decrease of touch and pain sensation in the right C6 and C7 segments. Painful dysesthesia was present in the left hand and right lower limb. The search for serum antibodies against GM1, GM2, GM3, GD1a, Gd1b, GQ1b, GA1, and GT1b was negative. No abnormality except mild cervical spondylotic changes was evident in the magnetic resonance imaging of the brain and spinal cord. The upper limb motor evoked potentials (MEPs) were not elicited by the left cortical stimulation and the central motor conduction time by the right cortical stimulation was remarkably prolonged in the upper limb MEPs. Nerve conduction study showed a delay of motor conduction velocity and distal latency in the right median and bilateral ulnar nerves with low amplitude and delayed velocity of sensory nerves of those nerves. Needle EMG revealed diffuse ongoing denervation potentials in bilateral upper limbs and giant motor unit potentials in the right triceps and first dorsal interossei muscles. These findings indicate that the delayed motor neuron syndrome induced by electrical shock is characteristic for having demyelination as well as axonal changes in both central and peripheral nervous systems.     

Postural and resting tremor in the upper limb.

OBJECTIVE: Tremor from multiple segments of the upper limb was recorded under postural and resting conditions. The aims of this study were to examine the nature of tremor within a single limb segment, intra- and inter-limb co-ordination of tremor, and the influence of cardiac mechanical events on physiological tremor. METHODS: Tremor was recorded from eight healthy adult subjects during a postural pointing task where the level of support for the upper limb segments was successively increased. The dynamics of tremor within a single segment were examined using power spectral, ApEn and amplitude analyses. Inter-segment tremor relations were determined using coherence and Cross-correlation analyses.RESULTS: Single segment analysis demonstrated that each (unsupported) limb segment contained two major frequency peaks (at 1-4 Hz and 8-12 Hz). Both peaks were still evident in the distal segments when the proximal segments were supported. External support of the more proximal limb segments also resulted in decreased finger tremor, but these changes were not simply additive over segments within a limb or equal across fingers. There were significant relations between adjacent proximal and distal limb segment pairs but no correlations between contralateral limb segments or between heart rate and limb tremor.CONCLUSIONS: These findings imply that: the low frequency component (1-4 Hz) of physiological tremor in the hand and finger could not be attributed to passive transmission of oscillations from the upper arm and forearm; and the contribution of proximal segments on tremor in the index finger tremor could not be predicted from mechanical principles alone. The minimization of finger tremor involved compensatory coupling of segments of the upper arm with particular emphasis upon active control of the wrist joint.     

Evolving resting head tremor in parkinsonism: Clinicopathological study of a case

IntroductionResting limb tremor (RLT) is a well known feature in parkinsonism. There is very little information on resting head tremor (RHT) in parkinsonism, and none in pathologically confirmed cases. The association between RLT and RHT remains uncertain.MethodsA Caucasian male developed upper limb tremor and voice changes at age 70. He was first assessed at our clinic at age 72. At age 73 he developed resting head tremor (RHT) which prevented him from falling asleep. His status was documented in longitudinal follow-up at our clinic. He had a total of 14 clinical evaluations and four videos made over 6 years. Autopsy of the brain and spinal cord was performed.ResultsThe resting head tremor improved on antiparkinsonian drugs and resolved completely after four years. Coincident with RHT remission, the upper limb tremor worsened and interfered with feeding, and his lower limb resting tremor became more pronounced. During his course he developed slow, scanning speech and all the cardinal motor findings of parkinsonism. There was no ophthalmoplegia. Post-mortem neuropathological examination revealed prominent progressive supranuclear palsy (PSP) changes and minor Lewy body pathology.ConclusionThis is the first autopsy confirmed case of parkinsonism with RHT. He had dual pathology. Dissociation between RHT and RLT indicates that the oscillatory brain centers for the two were different in this case.     

Vim thalamotomy for Holmes' tremor secondary to midbrain tumour

Holmes' (rubral or midbrain) tremor is an unusual combination of 2 Hz to 5 Hz rest, postural, and kinetic tremors of an upper extremity. This tremor has been considered to result from the lesions in the vicinity of the red nucleus in the midbrain. There has been no systematic analysis of the surgical target in the Holmes' tremor so far of nucleus ventrointermedius (Vim) or globus pallidus interna. This 26 year old man gradually developed a disabling midbrain tremor involving both the distal and proximal parts of the left upper arm. Additional neurological findings included oculomotor palsy and ataxia of the left arm. On the radiological studies, a mass lesion (germinoma) was found on the midbrain tegmentum, which was treated by conventional radiation therapy. Although there was improvement in the radiological imaging, his midbrain tremor became intolerable despite medical treatment. The authors performed MR guided stereotactic Vim thalamotomy. With radiofrequency lesioning in the right Vim, his resting, postural, and action tremors were much alleviated in both the distal and proximal parts of the left upper extremity. The authors consider that Vim thalamotomy is still an effective means of controlling midbrain tremors involving the proximal upper limb.     

Action‐induced clonus mimicking tremor

Action tremor has been described in cerebellar, task‐specific, dystonic, or Holmes tremor. We report 2 patients who developed unilateral kinetic or isometric action tremor of the upper extremity, following cervical spondylotic myelopathy and capsular ischemic stroke. Slight motor weakness and spasticity with exaggerated tendon jerks and passive stretch‐induced clonus were present on the same limb. The central motor pathways lesions might have been responsible for a hyperexcitability of the stretch‐reflex arc and an enhancement of the coactivation of skeletal muscles through a loss of the descending or segmental control of the spinal reflexes. The unusual topography of the symptoms, their occurrence during motion, and the similar frequency of the passive clonus and the action tremor, led us to hypothesize that both patients had prolonged action‐induced clonus, mimicking action tremor. Lesions of the central motor pathways lesions might be responsible for action tremor under certain conditions © 2007 Movement Disorder Society     

A case of postural and kinetic tremor caused by diffuse axonal injury]

We reported a 25-year-old woman with postural and kinetic tremor caused by diffuse axonal injury. The patient demonstrated consciousness disturbance, left oculomotor palsy and tetraparesis because of an automobile accident. T2-weighted and FLAIR MRI showed features of diffuse axonal injury. Hyperintense lesions appeared in the corpus callosum, fornix, dorsal portion of midbrain, right cerebral peduncle, and bilateral internal capsules. About 3 weeks later, head tremor and left hemiparesis appeared with improvement of consciousness. Administration of trihexyphenidyl decreased the tremor. Ten weeks after the accident, a coarse tremor in the head and right upper extremity developed after withdrawal of trihexyphenidyl. Tremor in the right upper limb predominantly occurred while maintaining an upright posture and with intended movements. Re-administration of trihexyphenidyl decreased the tremors. The dentatothalamic pathway is one of the lesions responsible for posttraumatic tremor. Our patient demonstrated lesions of diffuse axonal injury involving the dentatothalamic pathway. We considered that these lesions were associated with postural and kinetic tremor in our case. The tremor occurred at least 3 weeks after the accident. This finding suggested that the tremor was caused by transsynaptic alternations of thalamus or the extrapyramidal system secondary to involvement of the dentatothalamic pathway.     

Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

A 32 year old male is described with an onset of upper limb postural tremor in adolescence followed by muscle cramps. Progressive proximal amyotrophy and weakness in the limbs developed late in the third decade. Examination disclosed, in addition, bilateral facial weakness and mild dysarthria. Enzyme studies revealed hexosaminidase A and B deficiency, indicating a diagnosis of Sandhoff disease. Intra-axonal membranocytoplasmic bodies were present in a rectal biopsy. The presentation, which resembled that of X-linked bulbospinal neuronopathy, widens the clinical spectrum for disorders related to G(M2) gangliosidosis.     

A case of multiple sclerosis with paroxysmal attacks of facial paresthesia, unilateral hand tremor, epigastric pain and urinary incontinence]

A Japanese woman, aged 42, was admitted because of paroxysmal attacks consisting of paresthesia of the left face, tremor in the right hand, epigastric pain and urinary incontinence. A year prior to the admission, she noticed some difficulty in writing, dysarthria and unsteadiness of walking. These symptoms had been persistent since then. At the end of March, 1991, these symptoms rapidly worsened, and she fell down frequently. She also experienced pain behind both eyes, numbness in her left fingers and toe, urinary frequency and the above-mentioned attacks. Neurological examination disclosed bilateral internuclear ophthalmoplegia and upbeating nystagmus on upward gaze, titubation in the head, scanning speech, dysmetria in all limbs, exaggerated reflexes in jaw and both legs, bilateral extensor plantar reflexes and ankle clonus. SEP showed delayed cortical response with stimulation of the median nerves bilaterally and of the right posterior tibial nerve. P40 was absent with the left posterior tibial nerve stimulation. VEP was normal. T2-weighted image of MRI showed multiple high intensity areas located around the third ventricle, crus cerebri and the right upper part of the pons. The diagnosis of multiple sclerosis was made. Each paroxysmal attack started with numbness in the left face and burning sensation in the neck. Almost simultaneously tremor in the right hand began. The surface EMG showed the rhythmic contractions in the dorsal hand muscles and wrist extensors at a frequency of 6-7 Hz, and sometimes it revealed synchronized contractions of finger flexors and the dorsal hand muscles. A few seconds later she felt painful sensation in the epigastric region, and the tremor gradually increased in its intensity.(ABSTRACT TRUNCATED AT 250 WORDS)     

Bilateral cerebellar dysfunctions in a unilateral meso-diencephalic lesion.

The clinical syndrome of a 65-year-old patient with a slit-shaped right-sided meso-diencephalic lesion was analysed. A cerebellar syndrome with limb-kinetic ataxia, intention tremor and hypotonicity in all extremities as well as ataxic dysarthria was found. The disruption of the two cerebello-(rubro)-thalamic pathways probably explained the signs of bilateral cerebellar dysfunction. The uncrossed ascending limb of the right, and the crossed one of the left brachium conjunctivum may have been damaged by the unilateral lesion extending between caudal midbrain and dorsal thalamus.     

A case of posttraumatic parkinsonism]

We report a case of a 52-year-old man with posttraumatic parkinsonism. He was admitted to our department because of right-sided hand tremor and gait disturbance. He had suffered from a severe head injury incurred in a traffic accident with brief unconsciousness 6 months before admission. Three weeks after his injury, tremor and rigidity in the right upper limb developed, and he walked dragging his right leg. Five months after his injury, he received 1-dopa therapy, exhibiting a moderate improvement in parkinsonian symptoms. On admission, he was demented to a mild degree with masked face and monotonous speech. He presented with resting-postural-kinetic tremor and muscle rigidity on the right side. Cranial CT and MRI showed no abnormality. Inter-peak latencies of waves III to V of BAEP were significantly longer in this patient than in normal subjects. This BAEP findings suggested an upper brainstem lesion. 123I-IMP SPECT disclosed decreased cerebral blood flow in the left thalamus, bilateral frontal and parietal cortices. We diagnosed this case as having posttraumatic parkinsonism. Parkinsonism in the present case may be due to the involvement of multiple neuronal circuits of the extrapyramidal system at the level of the midbrain to the thalamus.     

Disappearance of essential tremor after thalamic infarction]

Stereotactic thalamotomy has been used with some benefit in the treatment of essential tremor. We report a 73-year-old woman whose essential tremor of the right hand spontaneously disappeared after thalamic infarction. She had suffered hand tremor of the right hand for seven years. One morning, she noticed mild muscular weakness in her right upper and lower extremities, numbness around her mouth and paresthesia in her right arm. Simultaneously, she noticed disappearance of the tremor of her right hand. Several days later, right hemiplegia and paresthesia completely resolved. Neurological examination revealed no postural tremor or resting tremor. T 2-weighted brain MR imaging showed a high-intensity signal in the left thalamus that involved the ventralis intermedius nucleus. Clinical recovery from the effect of the infarct on essential tremor was complete. Therefore, it seems that thalamic infarction in this patient had an effect on essential tremor similar to that achieved with thalamotomy.     

Wilson's disease: resolution of MRI lesions following long-term oral zinc therapy

A 28-year-old man with Wilson's disease developed neurological deterioration after a low-dose of d-penicillamine treatment for 2 weeks. He showed an akinetic rigid syndrome with generalized dystonia. Brain magnetic resonance images (MRI) on T₂ and proton weighted images showed an increased signal intensity over the thalamus, basal ganglia and brainstem, especially the midbrain and pons. After treatment had been changed to zinc sulphate, the akinetic-rigid syndrome and dystonia were improved slowly in the following 4 years. Serial MRI studies showed a gradual resolution of the lesions. His current neurological status was almost normal except for dysarthria and mild intention tremor.     

Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)

Two siblings of juvenile parkinson's disease dystonic type (JPA Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa, HPD) were reported. The family had consanguinity. The elder brother suffered from resting tremor of legs, left foot dystonia and left pes equinovarus at the age of 12 years and 5 months. At the age of 15, he developed tremor and rigidity of upper extremities. These symptoms did not show diurnal fluctuation and markedly responded to L-dopa treatment. He implicated wearing-off phenomenon at the age of 16, and on-off phenomenon and L-dopa-induced dyskinesia at the age of 18. He was diagnosed as JPA Yokochi type 3. The younger brother suffered from left pes equinovarus, right scoliosis and foot dystonia at the age of 8 years. These symptoms showed remarkable diurnal fluctuation, which ameliorated after sleep or rest and worsened afternoon. He noticed fine postural tremor of upper extremities at psychological tense state and right pes varus at the age of 16. He received L-dopa at the age of 17 and became to be remission. He was diagnosed as HPD. Since these two disorders related to basal ganglia show similar clinical symptoms mainly consisting of foot dystonia and similar clinicopharmacological response to L-dopa, it has been assumed that shared abnormalities in pathomechanism can exist between them. This study indicates that the same gene-regulated abnormality may participate in the development of these two disorders.     

Type 3 (adult) GM1 gangliosidosis: case report

GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid beta-galactosidase deficiency. There have been a few cases in adults. We saw a 51-year-old Japanese man with type 3 GM1 gangliosidosis who was manifesting dementia, dysarthria, gait disturbance, and limb rigidity. Radiologic studies showed platyspondylia, acetabular hypoplasia, and flattened femoral heads. Biochemical analysis revealed generalized acid beta-galactosidase deficiency.     

Acquired capsular/striatal aphasia in childhood

We studied a case of language loss caused by an acquired vascular lesion in the putamen, anterior limb of the internal capsule, and lateral aspect of the head of the caudate nucleus in a 7-year-old right-handed girl. Acute right-sided hemiplegia, mutism, oral apraxia, and disturbance in language comprehension but no dysarthria were present. During recovery, a nonfluent aphasia with anomia was evident. After six months, only mild hemiparesis and minor spelling difficulties persisted. We compared this patient with an 11-year-old right-handed girl with right-sided hemiparesis and dysarthria but no language loss following a lesion in the globus pallidus, a portion of the posterior limb of the internal capsule, and the body of the caudate. The presence of a language disturbance in the first but not the second patient was attributed to the difference in lesion location. The symptoms and lesions were similar to those in recent reports of adult patients. To our knowledge, this is the first report of these findings in a child with a left-hemisphere lesion.