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)

We studied 3 pedigrees affected with autosomal dominant olivopontocerebellar atrophy (OPCA), and clinical features of 10 patients were reported. Clinically, 6 cases were dominated with cerebellar ataxia, one with Parkinsonism, and three with choreiform movements. Furthermore, they were characterized by slow eye movement and progressive loss of tendon reflexes. Generally, extrapyramidal manifestations, such as Parkinsonism or choreiform movements, are occasionally observed in dominant OPCA. However, the pathogeneses are different from each other. The choreiform movements are unique in dominant OPCA, and generally not observed in sporadic OPCA. In the distribution of degenerated foci, dominant OPCA is often associated with degeneration of not only substantia nigra, but also with other structures such as dentate nucleus, red nucleus, external segment of globus pallidus (GPe), and subthalamic nucleus. This dentatorubral and pallido-Luysian system degeneration are parts of neuropathological findings in hereditary DRPLA (Naito-Oyanagi form). In both disorders, choreiform movements is observed. Current theory indicates that hyperactivity of neostriatal dopamine neurons and degeneration of GPe play roles in the pathogenesis of chorea. Clinically, choreiform movements are common in hereditary DRPLA, but not in dominant OPCA. This difference could be explained by the nigral degeneration in dominant OPCA, which suppress the generation of choreiform movements.
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PMID:[Extrapyramidal manifestations in hereditary olivopontocerebellar atrophy--clinical study of 10 cases in three affected pedigrees]. 155 61

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

An 11-yr-old girl with Huntington's chorea since the age of 4 had mental deterioration, chorea, rigidity, generalized convulsions and cerebellar ataxia. Computerized tomography (CT) showed atrophy of the cerebellum and brain stem in addition to atrophy of the caudate nucleus and cerebral cortex.
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PMID:Cerebellum and brain stem atrophy in a child with Huntington's chorea. 623 Feb 8

A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.
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PMID:A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. 769 40

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

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by combined systemic degeneration of the dentatofugal and pallidofugal pathways. The patients show a variable combination of symptoms including cerebellar ataxia, involuntary movements like chorea and athetosis, myoclonic epilepsy and dementia. We found expansion of an unstable CAG repeat in the patients, and then determined the cDNA and genomic forms of the gene, as reported in Nature Genetics 6:14-18 and 8:177-182, 1994. In this review, we summarize our studies on repeat expansion of the DRPLA gene, and discuss the common and distinctive features among triplet repeat disorders.
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PMID:[Triplet repeat disorder, dentatorubral and pallidoluysian atrophy DRPLA)]. 775 62

A nationwide survey of patients in Japan with spinocerebellar degenerations (SCD), including SDS and SND, was conducted from 1988 to 1989. The survey consisted of two parts. The first revealed that the estimated total number of patients with SCD in Japan was 5,050 (range: 4,100-6,000) with an estimated prevalence of 4.53 per 100,000 in 1987. The second part investigated the neurological and functional status of patients with SCD. The percentages of those belonging to each subtype of SCD were: OPCA; 34.4%, LCCA; 15.2%, MHCA; 12.6%, HHCA; 7.5%, SDS; 7.0%, HSP; 3.9%, DRPLA; 2.5%, FA; 2.4%, MJD; 2.0% and SND; 1.5%. Compared with European epidemiological studies Japan had a higher proportion of non-hereditary types of SCD. Various clinical features of SCD subtypes were compared grouped by pathological lesion and heredity. HHCA and LCCA: cerebellar ataxia predominated in all stages, and neurological signs other than cerebellar ataxia were rare. MHCA, DRPLA and MJD: in the early phase ataxia was the most common symptom in MHCA, the AC form of DRPLA and MJD, but ataxia was less common and chorea or epilepsy were often observed in ME and PH forms of DRPLA. Other frequently observed clinical features were parkinsonian rigidity in MHCA, abnormal movements and posture in DRPLA and MJD, and disturbances of eye movements in MHCA, the AC form of DRPLA and MJD. OPCA, SDS and SND: dominant clinical features were cerebellar ataxia in OPCA, autonomic disturbance in SDS, and parkinsonian rigidity in SND. FA and HSP: both were rare in Japan. Clinical features related to supra-supinal lesions were frequently observed in FA. Functional status of SCD: the severity of illness was significantly associated with the level of independence in each item of ADL. Activities not requiring dynamic balance were performed independently for a longer period than those requiring dynamic balance. Among SCD subtypes, functional prognosis was poorest in non-hereditary, multi-systemic types (OPCA, SDS and SND) followed by hereditary multi-systemic types (MHCA, DRPLA and MJD), and better in spinal types (FA and HSP) and cerebellar types (HHCA and LCCA).
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PMID:Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. 805 95

Infections with malaria are increasing in Europe and Northern America and are also spreading in tropical endemic areas. A falciparum variety of malaria known as cerebral malaria is the most well-known neurological complication, caused by Plasmodium falciparum and characterised by a fulminant course with disturbances of consciousness and facultative seizures or focal neurological deficits. 50% of deaths caused by malaria are due to cerebral involvement. Pathologically a disseminated vasculomyelinopathic disorder is seen. Immunological changes, vascular-hypoxic disturbances and metabolic-toxic factors contribute to these pathological findings. Facts on diagnostic, differential diagnostic and therapeutic procedures are presented. Beside the severe and life-threatening cerebral malaria some unspecific cerebral symptoms are seen, such as cerebellar ataxia and chorea. Spinal disease and peripheral nerve involvement, polyradiculitis and especially psychiatric disorders have also been described. Every neurological and psychiatric disorder presented first in tropical areas or malaria-endemic regions requires malaria diagnostic tests. In our geographical region, any previous history of a journey to the tropics is an important pointer; in particular, neurological or psychiatric symptoms can be important pointers to malaria.
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PMID:[Neurologic complications of malaria infection]. 844 77

We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.
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PMID:Ataxia without telangiectasia masquerading as benign hereditary chorea. 1148 21

We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. Ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.
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PMID:A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma. 1052 42


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