Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A group of 20 patients with mixed connective tissue disease, followed for up to five years, was found to have a 55 per cent incidence of neuropsychiatric problems. An aseptic meningitis-like syndrome was the most common presentation and was rapidly responsive to corticosteroid therapy. Other findings were psychosis, convulsions, peripheral neuropathy, trigeminal neuropathy and cerebellar ataxia. An abnormal cerebrospinal fluid was found in five patients; mild pleocytosis, an increased protein content and a first phase colloidal gold curve were the main abnormalities. These neuropsychiatric problems have not been a cause of mortality in this group of patients with mixed connective tissue disease.
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PMID:Neuropsychiatric problems in mixed connective tissue disease. 21 65

Niemann-Pick type C disease diagnosed in adult neurology departments may be infantile or juvenile forms with prolonged life span or forms starting at adolescence or adulthood. The evolution is generally slower compared to the infantile cases. Psychomotor retardation is practically constant. Cerebellar ataxia and extrapyramidal manifestations are often found in opposition to pyramidal symptoms. Supranuclear ophthalmoplegia with a down-gaze failure is nearly constant. Cataplexy and other types of seizures may be found during the evolution of the disease. In some cases a psychosis may be the only manifestation for several years; the treatment by psychotropic drugs raises the question of a superimposition of a drug-induced lipidosis. Hepatosplenomegaly is often discrete, contrary to infantile cases. Foam cells or sea-blue histiocytes are a general feature of the disease. Although the primary defect is unknown, diagnosis must be confirmed by the defect in cholesterol esterification from exogenous cholesterol.
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PMID:Clinical aspects of Niemann-Pick type C disease in the adult. 181 35

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.
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PMID:The clinical aspects of adult hexosaminidase deficiencies. 184 98

An autopsy case of a 66 year-old woman is reported. She developed personality change and psychotic symptoms at the age of 58. She began to show gait disturbance and forgetfullness at the age of 60. She was admitted to Okayama University Hospital at the age of 61, when she showed personality change, dementia, cerebellar sings and chorea like involuntary movement. The illness progressed slowly and she died of septicemia at the age of 66. At autopsy brain weighed 990 g. Macroscopically, the atrophy of the brain stem was severe, and the cerebellum was slightly atrophic. Microscopically, the globus pallidus was almost intact, but the degeneration involved dentate nuclei, their projections, red nucleus and the subthalamic nuclei, so this case was considered to be a case of pseudo-Huntington form of dentatorubropallidoluysian atrophy, proposed by Hirayama. The most striking feature of this case was marked atrophy of the brain stem and her intense familial history. Investigation of her familial history revealed that there were 18 affected cases in 5 successive generations. Their onset of the disease varied from the age of 10 to 60 years old. Cases of juvenile onset showed myoclonus and convulsion as the initial symptoms, and convulsion as the initial symptoms, and those of presenile onset showed dementia, cerebellar ataxia and chorea like involuntary movement. And in some of these cases it was proved by NMR-CT that their brain stem were small. We discussed the meaning of the atrophy of the brain stem in these cases and the difference of the symptoms between the cases of juvenile onset and the cases of presenile onset.
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PMID:[An autopsy case of dentatorubropallidoluysian atrophy showing marked atrophy of the brain stem]. 296 93

Mycoplasma pneumoniae has long been recognized as an important agent of respiratory infections in humans. Less well known is the variety of extrapulmonary conditions associated with M. pneumoniae (Cassel, 1981; Ponka, 1979; Levine, 1978). The most common of these are central nervous system (CNS) complications (Lind, 1979) including meningitis, encephalitis, cranial nerve palsies, ascending paralysis (Guillain-Barre-like), transverse myelitis, cerebellar ataxia, polyradiculitis and acute psychosis. This paper describes a woman who developed an acute psychosis in the setting of a M. pneumoniae respiratory infection.
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PMID:Psychosis and mycoplasma pneumoniae. 312 52

Dentatorubropallidoluysian atrophy is a neurodegenerative disorder with characteristic pathology, chiefly described in reports from Japan, and is associated with an unstable CAG trinucleotide repeat in a gene on chromosome 12. We describe four European families, three British and one Maltese, with this mutation. All exhibited autosomal dominant inheritance, and there was evidence for anticipation associated with an increase of the expansion with paternal transmission in two families. Affected chromosomes from patients with dentatorubropallidoluysian atrophy had CAG expansions of 58 to 74 repeats, compared to 7 to 26 in control chromosomes, and the size of repeat was significantly inversely correlated with age of onset. The clinical features were diverse, even within individual families, and comprised a combination of a movement disorder (chorea, myoclonus, dystonia, or parkinsonism), cerebellar ataxia, epilepsy, psychosis, and dementia. A clinical diagnosis of Huntington's disease had been made in affected individuals from all families. Neuropathological examination of 2 patients showed no specific abnormality in one and degenerative changes predominantly affecting the spinal cord in the other. Investigation of 55 patients who might represent sporadic examples of dentatorubropallidoluysian atrophy did not detect any expanded alleles. Dentatorubropallidoluysian atrophy is likely to be more common than previously recognized in non-Japanese populations, and should be considered in any patient with a dominantly inherited neurodegenerative disorder with the above-mentioned clinical features.
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PMID:A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. 771 81

This hospital based study was carried out on 185 adult patients of cerebral malaria. Out of 185 patients, 62 (33.5%) died and 123 (66.5%) survived. Neurological sequelae were present in 13 (10.5%) of 123 survivors at the time of discharge (i.e. 10-15 days after recovery from coma) from the hospital. These were in form of psychosis in 5 patients (4%), cerebellar ataxia in 4 patients (3.2%), extrapyramidal rigidity in 2 patients (1.62%) and hemiplegia in 2 patients (1.62%).
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PMID:Incidence and outcome of neurological sequelae in survivors of cerebral malaria. 925 38

Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic aura phenomena including hemiparesis. So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense mutations within the CACNL1A4 gene. Here we report on a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes of acute paranoid psychosis with anxiety and visual hallucinations associated with migraine attacks. Based on the clinical and haplotype evidence indicating linkage to chromosome 19 in this family, we hypothesize that a dysfunction of the mutated calcium channel may be involved not only in the development of hemiplegic migraine but also in the acute psychotic episodes observed in these patients.
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PMID:Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis. 1020 46

Ramsay Hunt syndrome (RHS) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, grand mal seizure and severe cerebellar ataxia. There are few reports about the psychiatric disturbances associated with PME or RHS. The present study examines the evidence that RHS may accompany an organic mental syndrome, ethanol's effective suppression of myoclonus, and the possible resultant problem of alcohol dependence in RHS patients. Two brothers with the previous long-standing diagnosis of RHS and their mental symptoms of persecutory delusion and depression are reported, as well as the additional problem of alcohol dependence in one of them. The cerebellar dysfunction found in RHS may be associated with an underlying organic condition. Determination of the relationship between cerebellar dysfunction and psychosis in RHS will require further study. Although the mechanism of the suppression of myoclonus by alcohol remains unclear, patients should be allowed to drink socially, and alcohol consumption should not be totally prohibited. However, effective treatment of the problems of alcohol tolerance, abuse, or dependence requires the cooperation of both neurologists and psychiatrists.
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PMID:Progressive myoclonic epilepsies syndrome (Ramsay Hunt syndrome) with mental disorder: report of two cases. 1059 82

Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32) years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.
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PMID:Creutzfeldt-Jakob disease : report of 10 cases from North India. 1196 47


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