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PubMedDate not supplied

Movement-related cortical potentials.

Movement-related cortical potentials represent averaged electroencephalographic activity before and after a voluntary movement. They begin with a slowly rising negativity, called the Bereitschaftspotential (BP), and progress to a steeper, later negativity starting about 400 msec before the onset of movement, called the negativity slope (NS'). They are followed by the motor potential, which is seen partly before and partly after the movement. The initial slope of motor potential (isMP) occurs just before the onset of electromyographic (EMG) activity, is focal topographically over the primary motor cortex, and probably represents activation of the primary motor cortex. This contralateral focal negativity persists for 30 to 50 msec after the onset of EMG activity, when it then drops off in the central and parietal regions, an event called the parietal peak of motor potential (ppMP). Subsequently, the peak negativity shifts toward the anterior contralateral area, where it reaches the highest negativity of the recording, called the frontal peak of motor potential (fpMP). The fpMP appears to represent feedback from the movement and may originate, in part, from the supplementary motor area. In patients with congenital mirror movements, the isMP occurs bilaterally. In patients with Parkinson's disease and cerebellar disease, the isMP is more diffuse and the fpMP is more posterior than normal. Movement-related cortical potentials are useful research tools, but are not yet appropriate for clinical applications.

Action Potentials↗
PubMed2006

Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia.

Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despite recent advances in the understanding of the role of the cerebellum in cognition and behavior, the opinion that the clinical presentation of congenital cerebellar diseases is principally linked to motor dysfunction is common. This is largely due to the lack of well-organized epidemiologic studies on the prevalence of nonmotor disturbances in cerebellar disease. The association between congenital cerebellar disease and epilepsy has rarely been described. We report clinical, neurophysiologic, neuroimaging, and neuropsychologic features in a group of 14 patients with congenital nonprogressive cerebellar ataxia associated with cerebellar hypoplasia, 5 of whom have familial disease, aiming to further a better knowledge of the prevalence of cognitive and/or emotional impairment and epilepsy. The results confirm that cerebellar hypoplasia predisposes individuals to psychomotor delay (71.4%) and cognitive impairment (85.7%). Moreover, the tendency toward abnormal electroencephalographic (EEG) findings (78.5%), associated in a minor percentage of cases with epilepsy (28.5%), is also evident in our study.

Adolescent↗
PubMed1992

[Cerebellar dysarthria--a review of the literature].

This review summarizes and discusses the literature on speech deficits in cerebellar diseases and on the topography of cerebellar dysarthria. Clinical descriptions of dysarthric features in cerebellar diseases, parametric investigations of ataxic dysarthria, and experimental studies in animals concerning the effects of lesions on vocalization and the representation of sensorimotor orofacial functions in the cerebellum are considered. Signs of cerebellar dysarthria include a slowing down of articulatory movements, increased variability of pitch and loudness, monotonous and "scanning" speech, and articulatory impreciseness. The available data indicate that the paramedian regions of the superior cerebellar hemispheres are relevant for the development of cerebellar dysarthria.

Articulation Disorders↗
PubMed1989

The role of cerebellar structures in the execution of serial movements.

Thirteen patients with bilateral cerebellar disease and 12 patients with unilateral cerebellar disease were instructed to execute movement sequences in response to a simple reaction signal. Each to-be-executed sequence consisted either of a single, two, or three keypress components. Evidence for cerebellar involvement in the execution of programmed responses was sought in the pattern of response onset times and interkeypress times. Patients with mild bilateral cerebellar dysfunction or mild unilateral dysfunction, and neurologically unimpaired subjects showed increases in response onset time as sequence length increased from L = 1 to L = 3. In contrast to this, there were negligible or no effects of sequence length on response onset time in patients with moderate bilateral cerebellar dysfunction and in patients with moderate unilateral cerebellar dysfunction who responded with the hand ipsilateral to the lesion. Furthermore, cerebellar dysfunction was associated with significantly slower interkeypress reaction times. These results support the hypothesis that the translation of a programmed sequence of responses into action involves cerebellar structures which schedule a sequence of ordered responses before onset of movement.

Adult↗
PubMed2003

[At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach].

The developmental characteristics of the cerebellum, including its histogenesis which persists well beyond birth, explain, at least in part,why the mechanisms of cerebral disorders of infancy remain equivocal. The nosology of certain congenital ataxias, especially those with cerebellar hypoplasia, remains ambiguous, at the crossroads between early degenerative disease and congenital non-progressive anomalies. We have revisited the clinical approach to the most frequent situations: (1) the careful dysmorphology work-up must search for any element of various recognizable syndromes, especially those transmitted by autosomal recessive inheritance. An update of list of such syndromes is provided. (2) Cerebellum imaging must be obtained as early as possible and re-documented with a long-term follow-up. Emerging 3D techniques should help improve morphological evaluation. (3) One the contrary, a complex biochemical work-up, looking for metabolic diseases, is required only when the clinical and radiological evaluations provide unusual data. (4) Mental status is always the most relevant element of prognosis. t is frequently compromised, including in congenital non-progressive ataxia with normal imaging. Beyond the classical strategies, the genetic approach must take into consideration possible phenotypic homologies with natural or experimental animal models. This approach is illustrated by the recent discovery of mutations with the human homolog of the Reeler gene in a subset of cerebellar agenesis associated with other dysgenetic elements.

Animals↗
PubMedDate not supplied

[Computerized method for arm movement assessment in Parkinson's disease and cerebellar syndrome patients].

BACKGROUND: In clinical setting, the symptoms of the impaired motor behavior in patients with different neurological diseases are identified by classical tests incorporated in clinical neurological examination. New computerized methods for objective motor assessment have been recently suggested in the literature. We developed computerized method for assessment and evaluation of arm movement in patients with Parkinson's disease (PD) in early phase and in patients with cerebellar syndrome. Method is based on automatic acquisition of hand coordinates during drawing of line and circle, and off-line analysis of kinematic parameters (time duration, path length, mean and maximal velocity, velocity profile, and precision). Clinical application is in recognition and follow-up of the impaired kinematic parameters, specific for these two groups of patients. AIM: We propose computerized method that consists of two motor tasks: Task 1- drawing a line defined with end points; and Task 2 - drawing a circle defined by referential model. The first task was rather simple with defined direction, and the second included continuous change of the direction that required permanent adjustment. The aim was to detect which kinematic parameters were particularly different in PD and in patients with cerebellar syndrome in relation to healthy controls, and then to apply this method as an additional instrument in clinical evaluation. METHODS: Hand trajectories were assessed during simple self-paced 1) point-to-point movement-Task 1; and 2) circle-Task 2, by cordless magnetic mouse in a hand on digitizing board (Drawing board 111, 305 x 457 mm, GTCO Cal Comp Inc). The subjects were seated in a relaxed manner on the chair adjusted to the table height, and instructed not to correct drawn line during performance of a task. The first session was for practicing the tests only, and in the next session, the subjects repeated 5 times each task. All sessions were videotaped with CCD camera. Testing included three groups: 10 Parkinsonian patients, 8 patients with cerebellar syndrome and 10 healthy controls, age matched, with not known neurologic motor or sensory disorders. Data were obtained using custom-made software written in C++, and stored in computer for further analysis. Data were analyzed using the Excel (ver. 9.0) and MatLab (ver. 6.0). The following kinematic parameters were calculated: time duration, path length, mean and maximal velocity, velocity profile and precision, and then statistically processed. Generalized linear model was formed in SPSS 10.0. RESULTS: The data from all subjects and from all trials for two tasks were first visually inspected. In the first task, PD patients significantly differed in relation to controls in the following parameters: mean and maximal velocity, while in the second task, time duration and mean velocity were significantly different. For patients with cerebellar syndrome in relation to controls, mean and maximal velocity, and path length were significantly different for the first task, while in the second task, path length. For the task to draw a line, both groups of patients had statistically smaller mean and maximal velocities in respect to controls, and for the drawing of a circle, none parameter was at the same time statistically different for both groups in regard to controls. Between the two groups of patients, the only statistically different kinematic parameter was the length of drawn line. The velocity profile for the same task was shown as characteristic for the three groups. CONCLUSION: Identifying the abnormal kinetic parameters of hand movement as well as their correlation with classical clinical signs could be highly important in the process of patient's motor control status evaluation, and could enable better understanding of the course and prognosis of specific pathological entity.

Adult↗
PubMedDate not supplied

[Cerebellar amyloid plaques in Alzheimer's disease].

In a consecutive series of 30 brains of demented patients (presenile, senile and familial types) with the histological hallmarks of Alzheimer's disease, cerebellar amyloid plaques and cerebellar amyloid angiopathy were observed in 80% of the cases. These cerebellar amyloid plaques were sometimes centered on a small amyloidotic blood vessel. They were immunostained with A4 antiserum, but they were not surrounded by a crown of swollen neurites as demonstrated with silver impregnation and Tau antiserum. They were not immunostained with SAF antiserum which decorated the cerebellar Kuru-like plaques observed in subacute transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome. The absence of neuritic changes around the numerous cerebellar amyloid plaques frequently observed in cases of Alzheimer's disease is an interesting feature and will perhaps explain the mechanism of cytoskeleton changes occurring in the neurons of the cerebral cortex.

Aged↗
PubMed1976

The clinical significance of pneumographic cerebellar atrophy.

The clinical significance of apparent pneumographic cerebellar atrophy has been studied in a group of 44 otherwise unselected patients found to have cerebellar atrophy, according to previously suggested criteria, at pneumoencephalography. Lateral and postero-anterior tomography of the posterior fossa was performed in all these cases. In each case the width of two or more sulci in the cerebellar vermis exceeded 2 mm. We have concluded that: (1) There is a relationship between the severity of pneumographic cerebellar atrophy and the severity of clinical signs of cerebellar disease (p = 0.03). (2) Severe or moderate atrophy of the vermis, whether generalized or focal, is usually associated with clinical signs of cerebellar disease, but mild atrophy of the vermis, equivalent to the "moderate" atrophy of previous studies, has no apparent diagnostic significance. (3) Atrophy of the cerebellar hemispheres, in the absence of atrophy of the vermis, is very unusual and it cannot, by itself, be correlated with clinical signs of cerebellar disease. (4) In individual cases, assessment of the significance of pneumographic cerebellar atrophy cannot be made without adequate clinical information.

Adult↗
PubMed2003

Cerebellar agenesis: clinical, neuropsychological and MR findings.

Cases of cerebellar agenesis are rare. The degree of motor impairment is a matter of discussion. It has been claimed that normal motor function can be observed. Detailed descriptions of neurological findings, however, are lacking. Neuropsychological testing in cerebellar agenesis is of additional interest based on recent findings of impaired non-motor functions in cerebellar disease. The case of an elderly woman with cerebellar agenesis is presented. 3D-MR imaging was used to confirm the diagnosis. Neurological and neuropsychological examination was performed including video documentation (see the authors' own website). To assess deficits of motor learning eyeblink conditioning was investigated. Neurological examination revealed mild to moderate signs of cerebellar dysarthria, upper and lower limb ataxia and ataxia of stance and gait. Motor learning was affected as shown by inability to acquire conditioned eyeblink responses. In addition, neuropsychological testing disclosed mild to moderate deficits in IQ, planning behavior, visuospatial abilities, memory and attention. Cerebellar ataxia, although clearly present, was less than one would expect in almost complete absence of the cerebellum. Neuropsychological deficits, on the other hand, appeared to be more marked than one would expect in cerebellar disease. No conclusion, however, could be drawn whether impaired cognitive development and neuropsychological test performance were directly related to lack of cerebellar function, or caused by impaired motor development and performance.

Ataxia↗
PubMed2002

[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications].

INTRODUCTION: Melas syndrome is a mitochondrial disease which corresponds to the association of mitochondrial encephalopathy, lactic acidosis and stroke-like espisodes. CASE REPORT: The authors report the case of a 39 year-old woman presenting with hearing loss, seizures, visual field deficit, three stroke-like episodes and calcifications of the basal ganglia and cerebellar dentate nuclei. Melas syndrome was suspected and confirmed by muscle biopsy, showing ragged red fibers and the presence of an A3243G mutation of mitochondrial DNA. CONCLUSION: This clinical, pathological and radiological observation shows that intracerebral calcifications may involve the dentate nuclei of the cerebellum in the Melas syndrome.

Adult↗
PubMed1977

The rebound phenomenon of Gordon Holmes.

Contrary to a prevalent belief, the rebound phenomenon of Gordon Holmes is not a sign of cerebellar disease. It is elicited by having the patient attempt to move a limb against resistance. When the resistance is suddenly removed, the limb normally moves a short distance in the desired direction and then rebounds (jerks back in the opposite direction). Gordon Holmes pointed out that the rebound phenomenon is (1) present in normal libs, (2) exaggreated in spastic limbs, and (3) absent in limbs affected by cerebellar disease. An awareness of Holmes's observations may be helpful in the diagnosis of both cerebellar disease and spasticity.

Animals↗
PubMed2005

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma).

This case report describes an adult male presenting with ataxia. Dysplastic cerebellar gangliocytoma, the Lhermitte-Duclos disease, was diagnosed on neuroimaging. Diagnosis was confirmed on histopathology of surgically removed lesion. Patient underwent an uneventful recovery following operative treatment.

Adult↗
PubMed1993

Procedural learning in Parkinson's disease and cerebellar degeneration.

We compared procedural learning, translation of procedural knowledge into declarative knowledge, and use of declarative knowledge in age-matched normal volunteers (n = 30), patients with Parkinson's disease (n = 20), and patients with cerebellar degeneration (n = 15) by using a serial reaction time task. Patients with Parkinson's disease achieved procedural knowledge and used declarative knowledge of the task to improve performance, but they required a larger number of repetitions of the task to translate procedural knowledge into declarative knowledge. Patients with cerebellar degeneration did not show performance improvement due to procedural learning, failed to achieve declarative knowledge, and showed limited use of declarative knowledge of the task to improve their performance. Both basal ganglia and cerebellum are involved in procedural learning, but their roles are different. The normal influence of the basal ganglia on the prefrontal cortex may be required for timely access of information to and from the working memory buffer, while the cerebellum may index and order events in the time domain and be therefore essential for any cognitive functions involving sequences.

Adult↗
PubMed2004

Comparison of patients with Parkinson's disease or cerebellar lesions in the production of periodic movements involving event-based or emergent timing.

We have hypothesized a distinction between the processes required to control the timing of different classes of periodic movements. In one class, salient events mark successive cycles. For these movements, we hypothesize that the temporal goal is a requisite component of the task representation, what we refer to as event-based timing. In the other class, the successive cycles are produced continuously. For these movements, alternative control strategies can optimize performance, allowing timing to be emergent. In a previous study, patients with cerebellar lesions were found to be selectively impaired on event-based timing tasks; they were unimpaired on a continuously produced task. In the present study, patients with Parkinson's disease were tested on repetitive movement tasks in which timing was either event-based or emergent. Temporal variability on either type of task did not differ between on- and off-medication sessions for the Parkinson's patients nor did patient performance differ from that of controls. These results suggest that the basal ganglia play a minimal role in movement timing and that impairments on event-based timing tasks are specific to cerebellar damage.

Aged↗
PubMed2002

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?

OBJECTIVES: Dysplastic gangliocytoma (Lhermitte-Duclos disease) is a rare disorder, characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. The fundamental nature of this apparently benign entity and in particular its pathogenesis remain unknown. The debate, whether it represents a neoplastic, malformative or hamartomatous lesion, is still in progress. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). METHODS: The present account gives a review of the pertinent literature with emphasize on clinical presentation, radiological findings, surgical procedures, histopathological features and pathogenetic considerations of dysplastic cerebellar gangliocytoma. RESULTS: Dysplastic cerebellar gangliocytoma clusters within the third to fourth decades of life. Cranial nerve palsies, unsteadiness of gait, ataxia and sudden neurological deterioration as a result of occlusive hydrocephalus are frequent signs and symptoms. Associations with other congenital malformations, such as megalencephaly, polydactylia, multiple haemangioma and skull abnormalities are common. Magnetic resonance imaging (MRI) is the diagnostic modality of choice and reveals characteristic non-enhancing gyriform patterns with enlargement of cerebellar folia. Surgery is the therapeutic procedure generally performed and complete resection was attempted in the majority of cases. The histopathological findings of Lhermitte-Duclos disease include widening of the molecular layer, which is occupied by abnormal ganglion cells, absence of the Purkinje cell layer and hypertrophy of the granule cell layer. CONCLUSIONS: Dysplastic gangliocytoma of the cerebellum is of benign behaviour and its incidence is extremely rare. The disease should be considered when confronted with a young adult presenting with clinical signs of progressive mass effect in the posterior fossa. The lesion is hypointense on T1- and hyperintense on T2-weighted magnetic resonance images. Recognition of the disease is of particular importance, as the frequent but under-reported coexistence with Cowden syndrome, should prompt thorough clinical and apparative investigation to detect or exclude concomitant malignancies.

Adult↗
PubMed1985

Mania in two sisters with similar cerebellar disturbance.

The authors describe two sisters who presented with a clinical picture consistent with mania. On further investigation, both had marked vermian and cerebellar cortical atrophy on CAT scans. Their mother also had a history suggestive of cerebellar disease. To the authors' knowledge, this is the first report of familial cerebellar disease with a clinical presentation of mania.

Adult↗
PubMed1981

Unusual presentation of Charcot Marie-Tooth disease-incoordination with absent of minimal wasting-Report of 2 cases.

Two patients are reported presenting with incoordination mimicking cerebellar disease in the upper and lower limbs, ataxia of gait, absent tendon reflexes and little or no clinically detectable wasting. Motor conduction velocity in the upper limbs was substantially reduced in one patient whereas it was normal and slightly reduced in the other. It is concluded that in Charcot-Marie Tooth disease incoordination may mimic cerebellar disease and when this is so it is due to the association of varying degrees of proprioceptive deafferentation and a dyskinesia similar to that produced by familial (essential) tremor.

Adolescent↗