Disease relevance of Cerebellar Diseases

• Mutations in the gene ATM are responsible for the genetic disorder ataxia-telangiectasia (A-T), which is characterized by cerebellar dysfunction, radiosensitivity, chromosomal instability and cancer predisposition [1].
• In addition to the usual toxicities associated with antimetabolites, neurotoxicity, mainly in the form of cerebellar dysfunction, develops in a significant proportion of patients receiving high-dose cytosine arabinoside HDara-C [2].
• The MAZ protein is an autoantigen of Hodgkin's disease and paraneoplastic cerebellar dysfunction [3].
• Kuru plaques in a Gerstmann-Sträusslar-Scheinker disease cerebellum also were not labeled by alpha 1-antichymotrypsin immunostaining [4].
• We describe a progressive neurologic disorder in three sisters characterized clinically by palatal myoclonus, spastic weakness, hyperreflexia, mild cerebellar dysfunction, and ocular motor abnormalities [5].

Psychiatry related information on Cerebellar Diseases

• Clinical symptoms of central nervous system disease indicate cerebral or cerebellar dysfunction with headache, fever, vomiting, altered mental status, lethargy, seizures, and coma [6].

High impact information on Cerebellar Diseases

• Delayed cerebellar disease and death after accidental exposure to dimethylmercury [7].
• Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia [8].
• These data indicate that a lack of FMRP leads to cerebellar deficits at both the cellular and behavioral levels and raise the possibility that cerebellar dysfunctions can contribute to motor learning deficits in Fragile X patients [9].
• SV40 T antigen (Tag) expression directed to cerebellar Purkinje cells resulted in the generation of three transgenic mouse lines that displayed ataxia, a neurological phenotype characteristic of cerebellar dysfunction [10].
• Cerebellar dysfunction after acute carbon tetrachloride poisoning [11].

Chemical compound and disease context of Cerebellar Diseases

• Is chemical neurotransmission altered specifically during methylmercury-induced cerebellar dysfunction [12]?
• The high IV cytarabine doses now commonly used can cause seizures, cerebral dysfunction, or an acute cerebellar syndrome with an incidence up to 14% [13].
• Effects of ketamine on leading saccades during smooth-pursuit eye movements may implicate cerebellar dysfunction in schizophrenia [14].
• CONCLUSIONS: In a case of episodic bilateral cerebellar dysfunction caused by hypoglycemia, quantitative dynamic PET study demonstrated decreased glucose uptake-to-utilization ratio and increased leak of glucose in the cerebellum [15].
• DESIGN: A double-blind crossover study with the levorotatory form of hydroxytryptophan was performed in 39 patients with degenerative cerebellar diseases [16].

Biological context of Cerebellar Diseases

• Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease [17].

Anatomical context of Cerebellar Diseases

• In addition to the cerebellar disease there is slow progressive degeneration in the retina (photoreceptor cells) and olfactory bulb [18].
• The clinical features observed in SRS are consistent with cerebellar dysfunction and a defective functioning of red nucleus neurons, which, at least in rats, contain high levels of spermine [19].
• Because of the high concentrations of gamma-aminobutyric acid (GABA) in the cerebellar cortex and nuclei, an attempt was made to enhance GABAergic transmission in patients with cerebellar disease [20].
• The two patients presented demonstrate two manifestations of 5-FU neurotoxicity, namely a cerebellar syndrome in association with global motor weakness and bulbar palsy, and a bilateral third cranial (oculomotor) nerve palsy [21].
• On the basis of our cases and a review of the literature, the majority of patients manifest sensorineural hearing loss in addition to cerebellar dysfunction, pyramidal tract signs, and progressive mental deterioration [22].

Gene context of Cerebellar Diseases

• These findings suggest that early cerebellar dysfunction in EA2 results from the intrinsically abnormal properties of the CACNA1A channel rather than a degenerative process [23].
• These findings suggest epitope spreading between the Tr antigen and the MAZ-DCC complex and offer a possible model of immune-mediated cerebellar disease [3].
• In order to better understand the cerebellar dysfunction in this condition, we recorded in vivo cerebellar activity in a mouse model of Angelman syndrome produced by null mutation of the maternal Ube3a gene [24].
• We found that MRL-lpr/lpr mice manifest severe and progressive behavioral disturbances indicative of cerebellar dysfunction beginning at 11 weeks of age [25].
• These findings suggest important pathophysiological roles of cerebellin and CRH in these cerebellar diseases [26].

Analytical, diagnostic and therapeutic context of Cerebellar Diseases

• Indirect immunofluorescence did not reveal anticerebellar antibodies in the serum or CSF of other patients with neoplasms, patients with other cerebellar disease, or normal controls [27].
• Therefore, this mouse is the first animal model in which effects of mGluR1 deficiency outside PCs can be studied without cerebellar dysfunction [28].
• There was, however, inter-individual variability in the treatment response.This double-blind study on cerebellar syndrome in MS patients did not confirm the positive effect of dolasetron mesilate suggested by previous studies [29].
• Abnormal CSF proteins of very similar appearance were found on isoelectric focusing in the acidic pH interval 5.6-5.8 in 80% of the patients with the cerebellar syndrome of chronic alcoholism [30].
• We report one patient with paralysis of the right upper extremity, bilateral cerebellar syndrome, and cognitive changes after treatment with interleukin-2 for metastatic renal cell carcinoma [31].

References