SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A case of slowly progressing cerebellar syndrome and pathologically confirmed adult coeliac disease is presented. Neurological symptoms progressed although the patient had no enteric complaints. This case seems to be identical with 18 previously reported cases of encephalopathy and adult coeliac disease. However, the aetiology and pathogenesis of the encephalopathy are still not known.
A progressive pancerebellar syndrome in a 57-year-old man heralded what was subsequently diagnosed by malabsorption studies and jejunal biopsy as adult celiac disease. Postmortem examination demonstrated characteristic gastrointestinal and cerebral abnormalities associated with this enteropathy. The neuropathology underlying the ataxia, as well as the clinical features of palatal myoclonus and marked speech impairment, included marked cerebellar cortical atrophy with cell loss in dentate and olivary nuclei. Intestinal-absorption studies are indicated to evaluate patients with any neurologic illness that may be related to malabsorption.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Clonidine has been proposed to differentiate multiple system atrophy (MSA) from idiopathic Parkinson's disease (IPD), as it does not increase growth hormone (GH) release in MSA. We studied GH release in response to clonidine in 7 IPD patients, 6 MSA patients, 4 patients affected by idiopathic late-onset cerebellar ataxia (ILOCA) and 8 healthy controls. In addition, we investigated the effects of GH releasing hormone plus arginine (GHRH-Arg) on GH release in the same patients. Both clonidine and GHRH-Arg raised serum GH levels in all groups examined. Clonidine failed to differentiate MSA from IPD and ILOCA. GHRH-Arg showed a lower increase of serum GH in MSA patients than in other groups, even if such difference was not statistically significant. We suggest that stimulation of GH release with GHRH-Arg rather than clonidine could differentiate MSA from IPD and ILOCA, but this hypothesis would need to be confirmed by further investigations.
Explore the source record for details and available documents.
Recent data suggest novel functional roles for cerebellar involvement in a number of neurologic diseases. Function of cerebellar neurons is known to be modulated by norepinephrine and adrenergic receptors. The distribution of adrenergic receptor subtypes has been described in experimental animals, but corroboration of such studies in the human cerebellum, necessary for drug treatment, is still lacking. In the present work we studied cell-specific localizations of alpha1 adrenergic receptor subtype mRNA (alpha 1a, alpha 1b, alpha 1d), and alpha2 adrenergic receptor subtype mRNA (alpha 2a, alpha 2b, alpha 2c) by in situ hybridization on cryostat sections of human cerebellum (cortical layers and dentate nucleus). We observed unique neuron-specific alpha1 adrenergic receptor and alpha2 adrenergic receptor subtype distribution in human cerebellum. The cerebellar cortex expresses mRNA encoding all six alpha adrenergic receptor subtypes, whereas dentate nucleus neurons express all subtype mRNAs, except alpha 2a adrenergic receptor mRNA. All Purkinje cells label strongly for alpha 2a and alpha 2b adrenergic receptor mRNA. Additionally, Purkinje cells of the anterior lobe vermis (lobules I to V) and uvula/tonsil (lobules IX/HIX) express alpha 1a and alpha 2c subtypes, and Purkinje cells in the ansiform lobule (lobule HVII) and uvula/tonsil express alpha 1b and alpha 2c adrenergic receptor subtypes. Basket cells show a strong signal for alpha 1a, moderate signal for alpha 2a and light label for alpha 2b adrenergic receptor mRNA. In stellate cells, besides a strong label of alpha 2a adrenergic receptor mRNA in all and moderate label of alpha 2b message in select stellate cells, the inner stellate cells are also moderately positive for alpha 1b adrenergic receptor mRNA. Granule and Golgi cells express high levels of alpha 2a and alpha 2b adrenergic receptor mRNAs. These data contribute new information regarding specific location of adrenergic receptor subtypes in human cerebellar neurons. We discuss our observations in terms of possible modulatory roles of adrenergic receptor subtypes in cerebellar neurons responding to sensory and autonomic input signals, and review species differences in cerebellar adrenergic receptor expression.
The cerebellar Purkinje cells in the hemizygote of the macular mutant mouse contain numerous abnormal mitochondria which show a marked decrease in cytochrome c oxidase activity. Using histochemical methods we studied the activity of other mitochondrial enzymes, such as NADH diaphorase and succinic dehydrogenase, in the cerebellar cortex of this mutant mouse. Such activities were markedly increased in the Purkinje cells, especially in the soma and stem dendrite, from 10 days after birth in the hemizygote as compared with findings in normal littermates. These results were considered to be due to an increased number of abnormal mitochondria.
A large kindred, with two brothers coming to autopsy, of a syndrome consisting of ataxia, dementia, and some Parkinsonian features is reported; inheritance appears to be autosomal dominant. Neuropathologically, there were plaques and neurofibrillary tangles in the cerebral cortex as well as some in the basal ganglia, particularly reminiscent of the plaques seen in Kuru; there was only minimal spinal cord disease (pyramidal tract field). The problems of classifying this condition--Alzheimer's disease with cerebellar involvement or other entities, such as the Gerstmann-Sträussler-Scheinker condition (1936), especially now that transmission to animals in the latter has been reported--are discussed. Some relevant theoretical considerations derived from animal work, particularly in scrapie, are also reviewed.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The cerebellar vermises from a 1 day old child who died with cystic dysplastic kidneys (Potter Type II) and from a 28 day old who died with infantile polycystic kidneys (Potter Type I) were studied by the Golgi silver method and electron microscopical procedures. Golgi stains showed that Purkinje cells from both cases had the following abnormal characteristics: (1) they retained perikaryal processes even at 37-42 weeks after conception although these processes are normally absent from the cerebellar vermis after 34 weeks of gestation; (2) The Purkinje cell dendrites had dilations at their numerous branchpoints. Ultrastructural studies indicated that climbing fibers remained in contact with the perikaryon of the Purkinje cell in both cases although they are not normally present on the perikaryon after 33 weeks gestation. The 1 day old child (Type II) had unusual synaptic structures of the dyad and serial type. The concurrence of cerebellar and kidney cell maldevelopment in this and a variety of other conditions suggests that there may be a pathogenetic and causal relationship between the two.
Alzheimer's dementia may be considered a synaptic disease of central neurons: the loss of synapses, reflected by early cognitive impairments, precedes the appearance of extra cellular focal deposits of beta-amyloid peptide in the brain of patients. Distinct immunocytochemical patterns of amyloid precursor proteins (APPs) have previously been demonstrated in the synapses by ultrastructural analysis in the cerebellum and hippocampus of adult rats and mice. Now we show that during postnatal development and during aging in these structures, the immunocytochemical expression of APPs increases in the synapses in parallel with the known up-regulation of total APPs brain levels. Interestingly, as shown previously in the adult rodents, the presenilins (PSs) 1 and 2, which intervene in APPs metabolism, exhibit a synaptic distribution pattern similar to that of APPs with parallel quantitative changes throughout life. In the brain tissue, single and double immunocytochemistry at the ultrastructural level shows co-localisation of APPs and PSs in axonal and dendritic synaptic compartments during postnatal synaptogenesis, adulthood and aging. In addition, double-labelling immunocytofluorescence detects these proteins close to synaptophysin at the growth cones of developing cultured neurons. Thusly, the brain expression of APPs and PSs appears to be regulated synchronously during lifespan in the synaptic compartments where the proteins are colocated. This suggests that PS-dependent processing of important synaptic proteins such as APPs could intervene in age-induced adjustments of synaptic relationships between specific types of neurons.
Explore the source record for details and available documents.
The Authors, referring to a clinical case, make a revision of the so-called atypic or intermediate forms of the heredo-atazies diseases and try to resolve the problem of their nosology, underlining the fact that these clinical forms tend to reveal themselves as different phenotypes, starting from a basic genotypes.
We studied a woman with adult onset celiac disease complicated by a cerebellar syndrome that progressed despite the resolution of the malabsorption symptoms with a gluten free diet. The patient presented vitamin E deficiency and the cerebellar symptoms improved with vitamin E therapy. This case supports the possible role of this deficiency in the development of the neurological complications of celiac disease.