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At least 721 records · Page 40Linked to original sources
PubMed2004

Intact ability to learn internal models of arm dynamics in Huntington's disease but not cerebellar degeneration.

Two different compensatory mechanisms are engaged when the nervous system senses errors during a reaching movement. First, on-line feedback control mechanisms produce in-flight corrections to reduce errors in the on-going movement. Second, these errors modify the internal model with which the motor plan is transformed into motor commands for the subsequent movements. What are the neural mechanisms of these compensatory systems? In a previous study, we reported that while on-line error correction was disturbed in patients with Huntington's disease (HD), it was largely intact in patients with cerebellar degeneration. Here we altered dynamics of reaching and studied the effect of error in one trial on the motor commands that initiated the subsequent trial. We observed that in patients with cerebellar degeneration, motor commands changed from trial-to-trial by an amount that was comparable to control subjects. However, these changes were random and were uninformed by the error in the preceding trial. In contrast, the change in motor commands of HD patients was strongly related to the error in the preceding trial. This error-dependent change had a sensitivity that was comparable to healthy controls. As a result, HD patients exhibited no significant deficits in adapting to novel arm dynamics, whereas cerebellar subjects were profoundly impaired. These results demonstrate a double dissociation between on-line and trial-to-trial error correction suggesting that these compensatory mechanisms have distinct neural bases that can be differentially affected by disease.

Adult↗
PubMedDate not supplied

MR features of diseases involving bilateral middle cerebellar peduncles.

BACKGROUND AND PURPOSE: Distribution of lesions or involvement of specific anatomic sites can suggest the diagnosis of disease. The purpose of this study was to investigate what diseases affect both middle cerebellar peduncles (MCPs) and to evaluate other MR features for differential diagnosis. METHODS: MR findings of 27 patients (14 male and 13 female; age range, 4-77 years [mean, 48.5 years]) with bilateral MCP lesions were retrospectively studied. RESULTS: Neurodegenerative diseases were the most frequent diagnoses (n = 11 [41%]: sporadic olivopontocerebellar atrophy, eight; Shy-Drager syndrome, one; spinocerebellar ataxia, two). Also included were metabolic diseases (n = 6 [22%]: adrenoleukodystrophy, two; Wilson disease, two; cirrhosis of the liver, one; and hypoglycemia, one); cerebrovascular diseases, including posterior reversible encephalopathy syndrome (n = 3 [11%]: infarction, one; hypertensive encephalopathy, one; cyclosporin-A encephalopathy, one), demyelinating and inflammatory diseases (n = 4 [15%]: multiple sclerosis, one; acute disseminated encephalomyelitis, one; Behçet disease, one; and HIV encephalopathy, one), and neoplasms (n = 3 [11%]: lymphoma, one; glioma, one; meningeal carcinomatosis, one). All patients showed symmetrical T2 hyperintensity in both MCPs, except for one with malignant lymphoma. Marked atrophy in the posterior fossa was characteristically seen in neurodegenerative diseases. Enlargement of the pons was observed in hypertensive encephalopathy and neoplasms but absent in meningeal carcinomatosis. Lesions were restricted in the posterior fossa in eight patients with neurodegenerative diseases and one with brain stem glioma. Other patients had supratentorial lesions. CONCLUSION: Symmetricity of MCP lesions, morphologic change of the posterior fossa structures, and distribution of other lesions are helpful in the differential diagnosis.

Adolescent↗
PubMed1997

[The association of Marchiafava-Bignami disease, cerebral pellagra and cerebellar degeneration in an alcoholic patient].

INTRODUCTION: Marchiafava-Bignami disease, cerebral pellagra and alcoholic cerebellar degeneration are a group of diseases included in the alcoholic encephalopathies, although they may also be caused by metabolic or nutritional disorders. The isolated appearance of these diseases usually permits diagnosis during the life of the patient, based on the neuro-radiological findings. However, their combination leads to complex form, with variable neurological expression, which means that precise diagnosis may often be post mortem. CLINICAL CASE: We present a malnourished alcoholic patient with neurological features compatible with alcoholic encephalopathy. The post mortem findings showed lesions typical of alcoholic cerebellar degeneration, cerebral pellagra and Marchiafava-Bignami disease.

Alcoholism↗
PubMed1982

Autosomal dominant idiopathic hypoparathyroidism and nervous system dysfunction: report of three cases and review of the literature.

The neurological manifestations of idiopathic hypoparathyroidism in a father, his son, and his daughter are reported. In all three epilepsy was the first manifestation of the disease. Father and son also showed mental deterioration and striocerebellar symptoms; their CT scans revealed symmetrical calcification in the basal ganglia and dentate nuclei. The extent of this calcification increased during normocalcemia, which was produced by dihydrotachysterol therapy. This indicates that other factors than merely hypocalcemia influence the intracerebral calcifying process. Somatosensory evoked potentials (SSEP) showed an abnormal nonspecific complex, indicating dysfunction of the cortical gray matter. It is suggested that in the evaluation of idiopathic hypoparathyroidism one also must be beware of the possibility of epilepsy, mental deterioration, striocerebellar symptoms, intracerebral calcification and SSEP disturbances.

Adult↗
PubMedDate not supplied

[Striato-pallido-dentate calcifications].

Striato-pallido-dentate calcifications (SPDC) is a well defined entity, characterized by calcium deposits in the basal ganglia, dentate nuclei and the centrum semiovale. Several metabolic derangements have been associated with this entity, particularly parathyroid disorders. The traditional designation of Fahr's syndrome should be restricted to the idiopathic cases. The authors report a study of seven patients with SPDC. Hypocalcemia was found in three cases, two with pseudohypoparathyroidism and one with hypoparathyroidism. Fahr's syndrome was diagnosed in four patients. Clinical and laboratory features are presented. Neurological manifestations included epilepsy, dementia and parkinsonism. Discussion focuses on the distinction of this entity from the small pallidal calcifications and on the pathophysiology of basal ganglia mineralisation, in view of recent reports.

Adolescent↗
PubMed1990

Dysplastic granulo-molecular hypertrophy of the cerebellar cortex (L'hermitte-Duclos disease): report of three cases.

In this paper three cases with peculiar disease of the cerebellar cortex are presented. The disease is well known as L'hermitte-Duclos disease (LDD), but nowadays it is also called "dysplastic granulo-molecular hypertrophy of the cerebellar cortex" according to the modern theories of its etiology. Curious changes of the cerebellum in LDD are probably the result of a combination of delayed migration of Purkinje cells which occurs during the intrauterine period of cerebellar development, and of reactive hypertrophy of granular cells. Presented cases of L'hermitte-Duclos disease are, according to the literature, more or less typical by their clinical appearance and by their histological findings. Our electromicroscopical data support the findings of those authors who found only axodendritic sinapses on the hypertrophied ganglion cells, according to the idea that those cells are originally granular cells of the cerebellar cortex. CT scan of all our patients revealed parallel, worm-like, hyperdense formations in a hypodense process of the cerebellum. The same picture existed in some other described patients, but attention was paid to it. We consider this picture on the computed tomography to be characteristic, if not even patognomonic for the L'hermitte-Duclos disease, which gives us an entirely new scientific contribution in the process of the diagnosis of this peculiar disease.

Adult↗
PubMed1977

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.

A boy with mild hand tremor since age 2 1/2 was found at 4 to have cherry-red spots and mild trucal ataxia without seizures or dementia. Biochemically, he had striking hexosaminidase deficiency (serum: 4.6 percent of normal, 88.9 percent heat-labile; leukocyte: 2.2 percent of normal, 84.6 percent heat-labile; fibroblast 12.8 percent normal, 93.1 percent heat-labile). The residual hexosaminidase activity migrated electrophoretically in two bands. The major band comigrated with hexosaminidase A, the minor with hexosaminidase S. Hexosaminidase B was totally absent. The parents had partially reduced hexosaminidase with a decreased heat-stabile fraction. This disorder may result from a new mutation closely related to that causing Sandhoff-Jatzkewitz disease.

Cerebellar Ataxia↗