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At least 739 records · Page 41Linked to original sources
PubMed2003

A case of Salla disease with involvement of the cerebellar white matter.

Salla disease (SD) is a lysosomal disorder manifesting in infancy with hypotonia, nystagmus, ataxia and retarded motor development. MRI typically shows hypomyelination confined to the cerebral white matter. We describe a patient with two MRI studies in addition to repeated urine examinations. This case was problematic because the first urine examination did not show the elevation of free sialic acid typical of SD and MRI was also atypical, with abnormal signal intensity in cerebellar white matter. We recommend repeated urinary examinations and a search for SLC17A5 mutations in patients with cerebral signal intensity abnormalities typical of SD and emphasise that cerebellar white-matter involvement on MRI does not exclude the diagnosis.

Cerebellum↗
PubMed1975

Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis.

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds but require confirmation by pneumoencephalography. In 3 French-Canadian sibships from the Saguenay-Lac St. Jean area of Quebec, patients with areflexia, muscular wasting and slowly progressive weakness in a paraparetic distribution were proved to have agenesis of the corpus callosum and anterior horn-cell disease, a syndrome not previously described. In another family, mental retardation, ataxia and episodic hyperpnea were associated with agenesis of the cerebellar vermis in 4 sibs. In yet another French-Canadian family, atrophy of the cerebellar vermis was associated with mental retardation, ataxia and a mild pyramidal syndrome. Because malformations of this nature are usually considered sporadic or multifactorial in origin, recognition of these specific clinical syndromes with probable autosomal recessive inheritance is important from the point of view of genetic counseling and prevention.

Agenesis of Corpus Callosum↗
PubMedDate not supplied

A comparative immunocytochemical study of human cerebellar cortex in X-chromosome-linked copper malabsorption (Menkes' kinky hair disease) and granule cell type cerebellar degeneration.

A comparative immunocytochemical study on the cerebellar cortex with X-chromosome-linked copper malabsorption (X-cLCM) and granule cell type cerebellar degeneration (gc-CD) was carried out by using specific monoclonal antibodies to synaptophysin (SY) and glial fibrillary acidic protein (GFAP). In X-cLCM cases, marked depletion of SY-immunoreactivity (IR) and reduction in number of SY-positive glomeruli were seen in the molecular and granular layers, respectively. Abnormal Purkinje cells occasionally showed moderately strong SY-IR having a fine granular pattern. Proliferation of GFAP-positive cells was observed in the granular and Purkinje cell layers. In the gc-CD case, SY-positive materials were coarsely distributed in a less dense fashion in the molecular layer as compared to a normal control. Purkinje cell perikarya did not show SY-IR. In the gc-CD granular layer, SY-IR appeared to have a coarsely punctate pattern, whereas immunoreactive glomeruli were almost completely absent. A number of GFAP-positive Bergmann cells was observed in the Purkinje cell layer and their fibres were densely and irregularly distributed in the molecular layer, whereas the granular layer was devoid of GFAP-positive cells. We present an immunocytochemical study of the X-cLCM and gc-CD cerebellar cortices, discuss the possible pathogenic mechanisms occurring in these diseases and discuss the usefulness of the SY-immunostaining technique for visualization of axon terminal involvement in these pathological conditions.

Brain Diseases, Metabolic↗
PubMed2002

Statistical parametric mapping of (99m)Tc-HMPAO-SPECT images for the diagnosis of Alzheimer's disease: normalizing to cerebellar tracer uptake.

BACKGROUND: For a quantitative comparison of images obtained during (99m)Tc-hexamethylpropylene amine oxime (HMPAO) single-photon emission computed tomography (SPECT), brain activity values are usually normalized to a reference region. In studies of Alzheimer-type dementia (ATD), the cerebellum is often used as a reference region, assuming that it is spared any major pathological involvement. Statistical parametric mapping (SPM) may enhance the evaluation of SPECT scans in ATD patients. However, current SPM software only allows scaling to average whole brain activity (i.e., global normalization). The aim of this study was to develop an easily applied, objective, and reproducible method for determining average cerebellar tracer uptake so that images can be scaled specifically to cerebellar activity prior to the performance of SPM analysis. We also investigated whether cerebellar normalization increases the sensitivity and specificity of SPM analysis of ATD patients compared with global normalization. METHODS: Image files were taken from a parallel study investigating the use of SPECT as a diagnostic tool for early onset of ATD. Two methods for determining cerebellar activity were developed: one manually, using templates, the other automated, using specified coordinates entered into a Matlab routine. Group comparison of ATD patients versus controls (= healthy volunteers and depressed patients) was performed on a voxel-by-voxel basis using SPM 96 on Windows 95. Receiver operator characteristics (ROC) were computed for 20 student raters examining patient and control scans with and without single-subject SPMs. RESULTS: The reduction of cerebral blood flow in the group of ATD patients appeared 1.7 times greater in spatial extent when the tracer uptake was normalized to cerebellum rather than to average whole brain activity. Computing the reverse contrast (reductions in the control group compared with ATD patients) produced clusters of significance in globally normalized images which were not manifest after normalizing to cerebellum. This is consistent with the notion that the cerebellum is spared in ATD. Analysis of the area under the ROC curve showed that cerebellar-normalized SPM produced significantly improved accuracy over perfusion scans alone. CONCLUSION: An easily applied, objective, reproducible method was developed for normalizing images to cerebellum prior to the performance of SPM analysis. Cerebellar normalization produced more extensive abnormalities in SPM analyses of ATD patients than global normalization. Furthermore, cerebellar normalization produced marginally more accurate diagnostic results in single-scan SPM analysis of ATD patients than did global normalization.

Aged↗
PubMed1993

Motor impairment in Wilson's disease, I: Slowness of voluntary limb movements.

Twenty-three patients with Wilson's disease (WD) treated with D-penicillamine underwent clinical examination, as well as laboratory and motor testing. The clinical findings were scored. Laboratory tests included determination of the caeruloplasmin level, the free serum copper level, 24 h urinary copper excretion, liver enzymes and in 10 patients liver copper content of a liver biopsy. Laboratory tests and clinical scores were correlated. To quantify impairment of voluntary movements in WD fastest possible isometric index finger extensions and fastest alternating finger movements were analysed. Eleven patients presented with abnormally slow and 15 with abnormally irregular voluntary movements. Slowness of alternating movements correlated with the clinical score. The clinical score also correlated with the duration of symptoms prior to onset of therapy. Motor testing turned out to be sensitive enough to monitor improvement of neurological symptoms after onset of therapy. Comparison with motor testing in other basal ganglia diseases and cerebellar patients showed differences to patients with Parkinson's and Huntington's disease and similarities to patients suffering from AIDS-related dementia. In a small number of WD-patients similar results as in patients with a degenerative cerebellar disease were found.

Adolescent↗
PubMedDate not supplied

Eye movements in cerebellar and combined cerebellobrainstem diseases.

We report a quantitative analysis of eye movement disturbances in patients with isolated cerebellar disorders and patients with cerebellar disorders and concomitant brainstem involvement. The most characteristic abnormalities in the exclusively cerebellar patients were increased velocities of the slow phases of vestibular nystagmus induced by rotation in the dark and increased peak velocities of the fast phases of optokinetic nystagmus induced by full-field optokinetic stimuli. Dysmetria of saccades was found in three of six cerebellar patients and gaze nystagmus in all six patients. The typical findings in the combined cerebellobrainstem group were reduced peak velocities of voluntary saccades, defective smooth pursuit and reduced peak velocities of the fast component of nystagmus during rotation in both the dark and light. All patients with combined cerebellobrainstem disorder had dysmetric voluntary saccades and gaze nystagmus. The numbers of superimposed saccades during smooth pursuit were uniformly increased. Release of inhibition in cerebellar disorders may explain the hyperresponsiveness and inaccuracy of eye movements found in this study. In addition, when lesions also involve the brainstem, however, integrative centers coding eye velocity are affected, leading to slow and inaccurate eye movements. These features elicited clinically may be useful in the diagnosis of cerebellar and brainstem disorders.

Adult↗
PubMed1998

[Polygraphic validation of distraction tasks in clinical differential tremor diagnosis].

In a total of 30 tremor patients (14 with Parkinson's disease, 6 with cerebellar tremor, 4 with essential tremor, 4 with psychogenic tremor, 2 with enhanced physiological tremor), tremor was electromyographically recorded before, during and after contralateral distraction tasks (tapping with the index finger or the tip of the foot, sequential flexion of the 2nd to 5th finger towards the thumb, "keyboarding", and sensory discrimination). 22 of 26 patients with organic tremors spontaneously choose a volitional tapping frequency independent from their tremor frequency. In 4 patients with psychogenic tremor, frequencies of tremor and tapping were locked (n = 3), or tremor disappeared abruptly (n = 1) when contralateral tapping was started. Contralateral "keyboarding" and sensory discrimination revealed no clear differences between organic and psychogenic tremors. Contralateral tapping in further 23 patients (22 with organic tremors and 1 with psychogenic tremor) confirmed these findings. Contralateral tapping appears as the most valid distraction task and may help to differentiate psychogenic from organic tremors.

Adult↗
PubMed1980

Increased mechanical muscle irritability syndrome.

The patient reported here presented electrically silent rolling movements of the muscle under hand compressions, myoedema and myotonia-like muscle responses to mechanical stimulation. These muscle contractions suggest a disturbance of the function of the myofibrillar apparatus. Th neuromuscular syndrome of our case is similar to the muscular disorder described by Torbergsen (1975), but in addition histochemical and electron microscopic studies of the muscle showed morphological abnormalities not related to any specific muscle disease. Furthermore, a cerebellar syndrome attributed to a cerebellar atrophy was the patient's main complaint. Both the neuromuscular syndrome and the cerebellar disorder were semeiologically independent of each other.

Atrophy↗