Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CEREBELLAR DISEASES”

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.

At least 775 records · Page 43Linked to original sources

Pathological changes in the terminal parts of Purkynĕ cell axons in the dentate nucleus of the cerebellum.

This paper describes abnormal argyrophilic swellings and rings in the dentate nucleus of the cerebellum in 46 cases of various human pathological conditions. The swellings represent accumulations of neurofilaments in the terminal parts of Purkyně cell axons. They may be evidence of disturbed functions of the Purkyně cell terminals due to different causes and common to many pathological conditions. These are as varied as acute ischaemic cerebellar cortical lesions, liver failure, and chronic nervous system degenerations, such as progressive supranuclear palsy and Friedreich's ataxia, and include transmissible ones like Creutzfeldt-Jakob disease.

Adolescent↗

Familial occurrence of hypothyroidism and cerebellar ataxia.

Several cases of association between cerebellar ataxia and hypothyroidism have been reported, in which cerebellar symptoms regressed after euthyroid state was obtained, suggesting an etiologic relationship between hypothyroidism and ataxia. We present a further case of hypothyroidism and ataxia, with a peculiar positive family history for both thyroid and cerebellar disorders. Long-term replacement therapy with L-thyroxine determined the regression of hypothyroidism; however, no improvement in cerebellar symptoms was observed. The lack of response of the neurologic symptoms to L-thyroxine treatment suggests the absence of an etiological relationship between thyroid disease and cerebellar disease in this case.

Adult↗

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.

Analysis of the age incidence curves for unilateral and bilateral retinoblastoma led Knudson to propose that hereditary tumours may arise by a single event and sporadic tumours by a two stage mutation process. It has been suggested recently that sporadic renal cell carcinoma may arise from a two stage mutation process. We analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangioblastoma. The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process. These data are compatible with the VHL gene functioning as a recessive tumour suppressor gene. Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus.

Adult↗

[The acute cerebellar ataxia, reccurrence of disease after 5 years--a case report].

Acute cerebellitis, also known as acute cerebellar ataxia, is a rare inflammatory syndrome characterized by cerebellar dysfunction. It typically occurs as a primary infectious, post-infectious or post vaccination disorder, typically in early childhood. The author presents a case of recurrent, acute cerebellar ataxia in a 20-year-old woman. In the described case the first event of acute cerebellar ataxia occured at the age of 15. The disease lasted 3 weeks and symptoms disappeared entirely. The similar symptoms recurred after 5 years but they were more pronounced and accompanied by pleocytosis, high protein level and low glucose level in cerebrospinal fluid. The symptoms disappeared entirely after 2 months of treatment.

Acute Disease↗