Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 37-year-old housewife, who had physical characteristics of cerebral gigantism, such as the tall stature, acromegaly, macrocephalia, high arched palate and antimongoloid slant, developed cerebellar ataxia and dysarthria. Her mother, uncle and grandmother were also reported to have slowly progressive gait disturbance. Her mother was also tall. Endocrinological studies failed to show any definite abnormality. CT and MRI revealed remarkable cerebellar atrophy. Though cerebral gigantism is often associated with clumsiness and incoordination, the etiology of the ataxia is poorly understood. This case indicates that the ataxia in cerebral gigantism may be, at least partly, caused by cerebellar atrophy.
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PMID:[A case of cerebral gigantism with cerebellar atrophy]. 240 Nov 12

Rolling mouse Nagoya (rolling), an experimental mutant mouse, is characterized by a marked incoordination of the hind limbs and disturbance of gait. These motor disturbances have been attributed to cerebellar dysfunction, and rolling, therefore, has been regarded as an animal model of hereditary cerebellar ataxia. However, definite evidence for this possibility has not yet been provided. In the present study, local cerebral glucose utilization (LCGU) was observed by means of the [14C]deoxyglucose method in rolling (rol/rol), as well as in behaviorally normal heterozygotes (+/rol) and normal controls (+/+), in order to study functional activity of the brain in these mice. A definite increase in LCGU was found in the globus pallidus, entopeduncular nucleus, subthalamic nucleus, and substantia nigra of rolling, bilaterally. A minimal decrease in LCGU was also found in the vermis of the cerebellum. These findings reflect the markedly hyperactive state of the basal ganglia and the minimally hypoactive state in the vermis of the cerebellum in rolling. It is concluded that the dysfunction in the basal ganglia is the major cause of the motor disturbances of rolling, and that rolling may be regarded as an animal model of extrapyramidal motor disturbance.
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PMID:Increased local cerebral glucose utilization in the basal ganglia of the rolling mouse Nagoya. 714 3

An electro-mechanical device has been used to measure muscle tone in 12 children with cerebellar ataxia and in 12 healthy children matched for age and sex. All the children also had their tone assessed clinically. The machine measurement showed that six (50%) of the 12 ataxic children had hypotonia, one was hypertonic, while five had normal tone. There was significant correlation between estimation of muscle tone by the machine and by clinical examination. The machine will serve as a valuable addition to other devices already being used to measure the other motor deficits encountered in children with cerebellar disease--such as devices that measure gait ataxia, truncal balance, intention tremor and incoordination of the limbs. It is re-emphasized that assessment or confirmation of clinical signs by reliable and reproducible instrumentation, offers a more objective basis for management and follow-up of patients, than clinical testing alone, and eliminates the often-encountered inter-tester discrepancies.
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PMID:Measurement of muscle tone in children with cerebellar ataxia. 806 75

A feature of cerebellar ataxia is dysmetria, which is characterized by inaccurate movements. Studies of rapid movements at a single joint show prolonged acceleration phases and prolonged initial bursts of EMG activity in the agonist muscle. These two features correlate with each other, suggesting that the prolongation of the neural signal is responsible for the kinematic abnormality. This explains a tendency to hypermetria. Studies of multijoint movements show abnormalities in relative timing of the different joints. During locomotion, knee and ankle motions can be delayed differentially with respect to the gait cycle. Subjects attempting straight-line movements with the arm have systematic deviations that reflect incoordination of the shoulder and elbow with respect to each other. A possible explanation of dysmetria is a failure of sufficient force generation within the necessary time to accomplish a coordinated movement. Another possible explanation is that the cerebellum is responsible for timing of brain functions.
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PMID:Physiologic studies of dysmetria in patients with cerebellar deficits. 833 98

Ataxia, or incoordination of movement, is a disorder that can be caused by damage to several different nervous system structures. Common causes of ataxia include damage of the cerebellum and damage of sensory structures. Sensory ataxia is distinguishable from cerebellar ataxia, because the sensory ataxia causes symptoms to worsen when movements are made with the eyes closed. The basic mechanism underlying ataxia is not yet understood, although studies indicate that ataxia may be due in part to an inability to coordinate the relative activity of multiple muscles and adjust movements at a given joint for the effects of other moving joints (interaction torques). Based on these findings, it could be reasoned that treatments focusing on strategies to reduce the complexity of a movement by minimizing the number of moving joints or by stabilizing against the inertial effects of limb movement will improve function. 2,12-14,21-23 Further testing of treatments for ataxia, however, is needed. Ataxia may be best treated by teaching people to avoid rapid multijoint movements and instead make slower movements limited to single joints.
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PMID:Mechanisms of ataxia. 932 25

A 70-year-old woman who has been suffering from diabetes mellitus since 67 years of age rapidly developed severe truncal ataxia. Neurological examination showed severe truncal ataxia, incoordination and decreased deep sensations in the bilateral lower extremities. A CSF study revealed a moderately elevated total protein (125 mg/dl) without any elevation of the cell count. A nerve conduction study supported the diagnosis of polyneuropathy. Lumbar MRI revealed spinal canal stenosis at the L3/L4-L5/S1 intervertebral levels due to disk herniations and ossification of the yellow ligaments. We examined cerebellar stimulation in order to determine whether the ataxia was due to dysfunction of the cerebellum or peripheral nervous system. Conditioning electrical stimulation over the cerebellum did not change the size of motor potentials evoked by magnetic cortical stimulation in the right first dorsal interosseous muscle. Her clinical course was good, and the limb and truncal ataxia became very mild about 4 months after the onset, although there was little change in the decreased deep sensations. The cerebellar stimulation in the second study was normal. We diagnosed her as having acute cerebellar ataxia and thought that the decreased deep sensations were due to diabetic polyneuropathy and lumbosacral radiculopathies. A cerebellar stimulation study was useful for the diagnosis and follow-up evaluation of acute cerebellar ataxia in this patient.
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PMID:[The diagnosis and follow-up evaluation of acute cerebellar ataxia supported by a cerebellar stimulation study]. 949 Sep 7

The effects of thyrotropin-releasing hormone (TRH) receptor agonists were examined on 3-acetylpyridine-induced cerebellar ataxia in rats. 3-acetylpyridine markedly decreased the maximal height of vertical jump, accompanied by motor incoordination. Both TA-0910 ((-)-N-[(S)-hexahydro-1-methyl-2,6-dioxo-4-pyrimidinylcarbonyl]-L- histidyl-L-prolinamide tetrahydrate; 0.3-3 mg/kg), a novel TRH analog, and TRH (10 and 30 mg/kg) significantly increased the suppressed maximal height of vertical jump after single intraperitoneal administration. The effects of these drugs reached a maximum at 1 h and disappeared 24 h after administration. Both the TA-0910 (1 mg/kg)- and TRH (10 mg/kg)-induced increases in the maximal height of vertical jump were completely counteracted by pretreatment with i.p. injected MK-801 (10,11-dihydro-5-methyl-5H-dibenzo[a,d]cyclohepten-5,10-imine maleate; 0.1 mg/kg), an NMDA receptor antagonist. Neither bicuculline, muscimol, baclofen, cyproheptadine nor prazosin affected the effect of the TRH receptor agonists. In conclusion, TA-0910 is more potent than TRH in ameliorating cerebellar functional disorders. The anti-ataxic effects of these TRH receptor agonists may be mediated by NMDA receptors in 3-acetylpyridine-treated rats.
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PMID:TRH receptor agonists ameliorate 3-acetylpyridine-induced ataxia through NMDA receptors in rats. 957 Apr 59

There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.
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PMID:Cerebellar Ataxia. 1109 49

We report a 61-year-old woman with Machado-Joseph disease (MJD) presenting with pure cerebellar ataxia. The patient exhibited an unsteady gait at the age of 51 years. She was admitted to our hospital at the age of 61 years. Her older brother had been diagnosed as having spinocerebellar degeneration (SCD). Our patient showed gaze-evoked nystagmus, wide-based gait, slight lack of coordination of the four extremities, mildly ataxic speech and slight decrease in the bilateral Achilles tendon reflexes. Babinski's sign was absent. Sensory impairments were not present and muscle tone and muscle strength were normal. There was no autonomic dysfunctions. MRI revealed moderate atrophy of the cerebellum and pons. We performed gene analysis of SCD using white blood cells from the patient, and the analysis showed 70 CAG repeats in the MJD1 gene, which is an abnormally high number of repeats. Compared with three reported cases of MJD presenting pure cerebellar ataxia, only our patient showed a nasal voice. The number of CAG repeats in the MJD1 gene of our patients was the most prolonged of the four cases. MJD should be considered in patients with familial SCD even if their neurological signs and symptoms outside the cerebellum are not obvious.
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PMID:[A case of Machado-Joseph disease presenting pure cerebellar ataxia]. 1188 37

Outbreaks of morbidity and mortality in double-crested cormorants (Phalacrocorax auritus) along Florida's Gulf Coast have occurred sporadically for at least 30 yr. During these outbreaks, the Clinic for the Rehabilitation of Wildlife, located on Sanibel Island in Florida, has admitted a substantial number of cormorants with consistent presentation of primarily neurologic clinical signs. In order to investigate the association of these outbreaks in cormorants with exposure to brevetoxin, we compared the timing of admittance of cormorants with outbreak-specific clinical signs to blooms of the brevetoxin-producing marine algae, Karenia brevis (formerly Gymnodinium breve), around Sanibel Island from 1995 through 1999. The clinic admitted 360 out of 613 cormorants with the common clinical sign of severe cerebellar ataxia in six outbreaks occurring during this period. The ataxia was characterized by a broad-based stance, truncal incoordination, hypermetric gait, and intention tremors of the head. The histopathologic findings in 10 cormorants euthanized in 1997 were mild and nonspecific. An immunohistochemical staining technique for the detection of brevetoxin in cormorants documented the uptake of brevetoxin in tissues from four cormorants admitted during an outbreak in 1997, but a modified technique used on samples from 11 cormorants admitted during a K. brevis bloom in 2000 produced indeterminate results. Admittance of cormorants with outbreak-specific clinical signs was positively correlated (P < 0.05) with concurrent concentrations of K. brevis in local water. The cross-correlation coefficient was also significant when increased K. brevis levels preceded cormorant admittances by 2, 4, 6, and 8 wk. This delay in time between K. brevis blooms and cormorant admittance and our clinical finding of neurologic abnormalities in cormorants without overt histopathologic features suggest an association between K. brevis blooms and local cormorant morbidity.
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PMID:Clinicopathologic features of suspected brevetoxicosis in double-crested cormorants (Phalacrocorax auritus) along the Florida Gulf Coast. 1221 98


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