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Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.

Aged↗

Fear conditioned changes of heart rate in patients with medial cerebellar lesions.

Fear conditioned changes of heart rate and skin conductance responses were investigated in patients with medial cerebellar lesions. A classical conditioning paradigm with a tone as the conditioned stimulus (CS) and an electrical shock as the unconditioned stimulus (US) was tested on five patients with medial cerebellar lesions due to surgery for astrocytoma and five controls. The CS preceded the US by 5900 ms and coterminated with the US. Changes in heart rate and skin conductance responses were obtained as measures for autonomic fear responses. Effects of conditioning were quantified by comparison of the habituation and extinction phases. Controls, but not cerebellar patients, showed a significant decrease of heart rate during fear conditioning. However, there were no significant fear conditioned changes in electrodermal responses in either group. In summary, the medial cerebellum seems to be involved in fear-conditioned bradycardia in humans.

Adolescent↗

Gait ataxia as a presenting symptom of malignant epidural spinal cord compression.

A 68 year old man with prostatic carcinoma developed spinal cord compression. The sole presenting feature was painless gait ataxia indistinguishable from cerebellar ataxia. He was investigated for cerebellar disease but the correct diagnosis was made when he subsequently presented with paraplegia and classical signs of spinal cord compression. Surgical decompression failed to produce neurological recovery. We discuss the importance of recognizing this unusual presentation of spinal cord compression, its possible mechanism and evidence that it may be under-reported.

Adenocarcinoma↗

Cerebellopontine angle masses: radiologic-pathologic correlation.

The cerebellopontine angle cistern is a cerebrospinal fluid-filled space bound by the pons, cerebellum, and petrous temporal bone. Masses in this region are readily identified on cross-sectional images. Differential diagnosis of masses in this region can be simplified by using an algorithmic approach that combines morphologic and enhancement characteristics with established demographic data. Schwannomas are enhancing, round masses, most commonly arising from the vestibular nerve near the porus acusticus and associated with enlargement of the internal auditory canal. Meningiomas are enhancing, oval or hemispheric lesions with a broad attachment to the tentorium or petrous dura mater. Congenital epidermoid inclusion cysts are nonenhancing masses that have undulating margins, molding their shape to conform to the adjacent structures. Aneurysms without significant internal thrombus have prominent flow voids on magnetic resonance images.

Adult↗

Brain lesions in patients with multiple sclerosis: detection with echo-planar imaging.

PURPOSE: To evaluate the detection of brain lesions with echo-planar imaging relative to conventional spin-echo (SE) imaging. MATERIALS AND METHODS: In 17 patients (three men, 14 women; mean age, 31 years) with multiple sclerosis, the following were compared: single-shot proton-density- and T2-weighted and thin-section T2-weighted echo-planar, proton-density- and T2-weighted multishot echo-planar, and conventional SE sequences. Quantitative and qualitative criteria as well as lesion detectability were evaluated. The proton-density-weighted SE sequence was used as the standard of reference. RESULTS: Multishot sequences were superior to single-shot sequences in image quality and lesion detectability. With the multishot proton-density-weighted sequence, 53 of 54 large lesions and 23 of 30 small lesions were detected; with the single-shot proton-density-weighted sequence, 38 of 54 large lesions and five of 30 small lesions were detected. CONCLUSION: With multishot echo-planar sequences, detectability of large lesions is similar to that with conventional SE imaging. Susceptibility artifact is diminished in comparison to single-shot echo-planar sequences.

Adult↗

Evidence that a disordered servo-like mechanism contributes to tremor in movements during cerebellar dysfunction.

The characteristics of discontinuities and tremor that occurred in elbow flexions during cooling of the lateral cerebellar nuclei were investigated in five Cebus monkeys. Discontinuities in movements appeared as rhythmical oscillations (kinetic tremor) when movements were slow or when movements were made with a constant force that loaded the antagonist. These oscillations had similar properties to cerebellar terminal tremor following movements; e.g., their amplitude and frequency were decreased by addition of mass to the handle and they occurred in the absence of visual feedback. The abnormal initial decrease in velocity that initiated oscillations in flexion movements was associated with abnormally early or large antagonist (triceps) electromyogram (EMG) activity. This abnormal EMG activity did not follow the normal inverse relation between initial velocity and antagonist latency from onset of movement. The initial deflection from the expected trajectory was opposed by a second burst of EMG activity in the agonist (biceps). This second burst was not the continuation of a step of EMG activity because its amplitude was often larger than the amplitude of the first agonist burst. The second agonist burst had the properties of a servo-like response: it occurred when biceps shortening was slowed (but biceps was not stretched), its magnitude was proportional to the magnitude or the deflection in velocity, its latency was 50-80 ms from onset of the abnormal decrease in velocity, and it occurred in the absence of visual feedback. However, this servo-like response was disordered because it did not return the limb accurately to the expected trajectory. The servo-like mechanism was studied further by applying torque pulse perturbations during elbow flexions. When the cerebellar nuclei were cooled, agonist responses to the perturbation were proportional to the size of the velocity deflection, but they were prolonged and onset of antagonist activity was delayed. It is suggested that discontinuities and tremor in movements during cerebellar dysfunction result from the same mechanism: alternation between disordered stretch reflexes and disordered servo-assistance mechanisms, both partly involving transcortical pathways.

Animals↗

Failure of cerebellar patients to time finger opening precisely causes ball high-low inaccuracy in overarm throws.

We investigated the idea that the cerebellum is required for precise timing of fast skilled arm movements by studying one situation where timing precision is required, namely finger opening in overarm throwing. Specifically, we tested the hypothesis that in overarm throws made by cerebellar patients, ball high-low inaccuracy is due to disordered timing of finger opening. Six cerebellar patients and six matched control subjects were instructed to throw tennis balls at three different speeds from a seated position while angular positions in three dimensions of five arm segments were recorded at 1,000 Hz with the search-coil technique. Cerebellar patients threw more slowly than controls, were markedly less accurate, had more variable hand trajectories, and showed increased variability in the timing, amplitude, and velocity of finger opening. Ball high-low inaccuracy was not related to variability in the height or direction of the hand trajectory or to variability in finger amplitude or velocity. Instead, the cause was variable timing of finger opening and thereby ball release occurring on a flattened arc hand trajectory. The ranges of finger opening times and ball release times (timing windows) for 95% of the throws were on average four to five times longer for cerebellar patients; e.g., across subjects mean ball release timing windows for throws made under the medium-speed instruction were 11 ms for controls and 55 ms for cerebellar patients. This increased timing variability could not be explained by disorder in control of force at the fingers. Because finger opening in throwing is likely controlled by a central command, the results implicate the cerebellum in timing the central command that initiates finger opening in this fast skilled multijoint arm movement.

Adolescent↗

Posterior fossa syndrome: identifiable risk factors and irreversible complications.

Cerebellar mutism was first described by Rekate et al. in 1985 as a transient condition which occurs after posterior fossa operations in children. Posterior fossa syndrome (PFS) and cerebellar mutism are often used interchangeably in the literature. In our experience, we found cerebellar mutism to be a reversible component of a persistent neurologic syndrome. The cause and identifiable risk factors have not been clearly elucidated in the literature. To further characterize PFS, we reviewed 253 children with posterior fossa tumors who underwent surgical resection. We documented 20 cases of PFS (8%), 12 males and 8 females. Age ranged from 1.5 to 13 years (mean = 6.5). Of the 20, 16 were medulloblastoma, 3 ependymoma and 1 astrocytoma. There was a 21 % incidence (16/76) of PFS in medulloblastoma of the posterior fossa. The incidence for ependymoma was 13% (3/24) and 1% (1/102) for astrocytoma. All 20 cases (100%) had brainstem involvement by the tumor. The most frequent postoperative findings included mutism, ataxia, 6th and 7th nerve palsies and hemiparesis. Mutism had a latency range of 1-7 days (mean = 1.7) and a duration of 6-365 days (mean = 69.2, median = 35). Although mutism resolved in all cases, the remaining neurologic complications which characterized our findings of PFS were rarely reversible. We describe potential risk factors for developing PFS after surgery with hopes of making neurosurgeons more aware of potential problems following the removal of lesions in this area. Early recognition of PFS would further promote patient and family understanding and coping with this syndrome.

Adolescent↗

Neurologic symptoms of basal cell nevus syndrome.

The neurological symptomatology of the basal cell nevus syndrome (Gorlin-Goltz syndrome) is described based on a personal observation and previously published cases. The case presented here, with dominant cerebellar symptomatology, optic atrophy and pyramidal signs, is discussed pathophysiologically either as a primary central nervous manifestation of the basic disturbance or as a secondary cerebral paraneoplastic process.

Adult↗

Lysosomal acid phosphatase decrease in nutritional encephalopathy in chicks.

Encephalopathy was induced in 14-day-old chicks by a vitamin E-deficient diet containing 15% thermally oxidized safflower oil. Bound acid phosphatase activity in the cerebellum was markedly lower in affected chicks than in vitamin E-supplied control chicks. Free activity also tended to be lower in the deficient group. There were no differences in enzyme activities of cerebrum and liver between deficient and control chicks.

Acid Phosphatase↗