Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features in 100 patients suffered from olivopontocerebellar atrophy (OPCA) and their genetic trait were studied. The diagnosis was verified in all cases with computed tomography, demonstrating the atrophy of cerebellum and brainstem, vascular, neoplastic, infectious and any other organic disorder suspected were excluded. 53 out of 100 cases were sporadic (SOPCA) and the remainder (47 cases) was familial (FOPCA). The age of onset in SOPCA group was 36.1 +/- 14.95 (M +/- SD) in average, while in FOPCA group was 28.9 +/- 11.8. It seems that the symptoms in FOPCA group develop earlier than that in SOPCA group (P less than 0.05). All 47 cases of FOPCA group belong to 36 families in which altogether 166 persons were involved. According to pedigree patterns, there were 26 families inherited as autosomal dominant trait and probably so in another 5 families. Autosomal recessive trait could be confirmed in 2 families, in which the parents of proband were consanguineous, and in 3 other families autosomal recessive trait of inheritance was highly suspected. Anticipation was demonstrated in 26 families with dominant inheritance. Generally, ataxia and weakness of legs develop as initial symptoms in 88% of cases, then followed by dysarthria, and ataxia of upper extremities. The rapid alternating test of hand was impaired in 95% of patients, however, tension tremor was revealed only in 53% of patients. A method for assessing the ataxia quantitatively was proposed, our data suggest that the quantitative alternating test in the upper extremity and the measurement of base-width in lower extremity seem to be valuable in identifying the intensity of ataxia.
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PMID:[Olivopontocerebellar atrophy: clinical analysis of 100 cases]. 186 Mar 80

We studied the clinical features of 47 patients with a non-hereditary degenerative disease and with atrophy of brainstem or cerebellum or both in CT scanning. There was no relation between the CT findings and duration or severity of the disease, nor with the kind of the neurological signs which comprised ataxia, a hypokinetic rigid syndrome, oculomotor abnormalities, upper and lower motor neuron signs, orthostatic hypotension and dementia. The 2 main diagnoses were olivopontocerebellar atrophy (OPCA), or a combination of OPCA and striatonigral degeneration (SND). The differential diagnosis with Parkinson's disease and progressive supranuclear palsy was discussed. We concluded, that a CT scan is warranted in all cases of suspected Parkinson's disease, especially in those without tremor, and in cases of motoneuron disease with broad-based gait. In our patients with mainly hypokinesia and rigidity, levodopa treatment had no or brief beneficial effects. If ataxia predominated, OPCA appeared the most sensible diagnosis; if a hypokinetic-rigid syndrome predominated, the diagnoses SND plus OPCA appeared the most suitable. We assessed the degree of atrophy on CT subjectively, because an interobserver study of 60 normal CT scans, did not produce reliable measurements.
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PMID:Non-familial degenerative disease and atrophy of brainstem and cerebellum. Clinical and CT data in 47 patients. 235 20

We report the clinical findings and the pedigree of 10 patients of a family from Blacos, a small village in the Soria province, who had Parkinson's disease and in whom secondary causes and other diseases such as essential tremor or OPCA, to be considered in the differential diagnosis, had been ruled out. There were 6 males and 4 females with a mean age of 72.1 years; the mean age at the onset of symptoms was 67 years. All had the akinetic-rigid type of disease, and associated tremor was present in two cases. 90% were in functional classes I-II of the UPRS (United Parkinson's disease Rating Scale). 50% are presently receiving levodopa therapy, and only one has complications due to it. Emphasis is made on the etiological and pathogenetical heterogeneity of Parkinson's disease, where exogenous factors are probably superimposed to a genetic susceptibility.
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PMID:[Familial Parkinson disease]. 236 Oct 35

Flunarizine hydrochloride (FZ), a calcium entry blockade, has been used nationwide in Japan as a cerebral active vasodilator since October, 1984. The present paper reports 31 cases of FZ-induced Parkinsonism, depression and akathisia, referred to our hospital between October 1986 and September 1988. Out of the 31 patients, four including two with Parkinson's disease and one each with progressive supranuclear palsy and olivopontocerebellar atrophy showed worsening of their parkinsonian symptoms within a few months after FZ administration. The remaining 27 patients (7 males and 20 females) newly developed Parkinsonism after treatment with FZ. Symptoms appeared one week to two years (mean: 6.1 months) after starting FZ of a daily dose of 10 mg. FZ had been used in 6 patients for cerebrovascular episodes confirmed by clinical history or brain CT, and in the remainder, for dizziness, light-headedness, hypertension, amnesia or hypochondric neurotic complaints. Akinesia and bradykinesia progressed rather rapidly after onset, and patients became unambulatory within several months. Symptoms had worsened, and L-dopa, anticholinergic drugs, and bromocriptine had been ineffective until FZ was discontinued. Their Parkinsonism was characterized by marked akinesia, bradykinesia, and moderate rigidity. Masked face was seen in most of them. Tremor was absent at rest, and induced in 12 patients by posture and/or action. Sixteen patients were accompanied by depression, and five, by akathisia. Improvement began several weeks after withdrawal of FZ, and most patients recovered almost completely within a few months although mild rigidity and bradykinesia remained in some.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Parkinsonism, depression and akathisia induced by flunarizine, a calcium entry blockade--report of 31 cases]. 258 81

A 72 years old man developed slowness of the motion and orthostatic hypotension at the age of 69. Neurological examination showed slight finger tremor, rigidity of extremities, bradykinesia, and marked orthostatic hypotension. The illness progressed steadily and the patient died of pneumonia. At autopsy brain weighed 1220 g. Grossly the putamen was bilaterally shrunken, the color of the substantia nigra and locus ceruleus became pale. Base of the pons and the cerebellum were atrophic. Microscopically the most remarkable change was seen in the striato-nigral system. In the putamen, there were severe loss of small neurons and intense gliosis and brownish pigments were observed in the neuropil and within some of the astrocytes. There found neuronal loss and gliosis in the substantia nigra. A few Lewy bodies were seen in the substantia nigra. In the cerebellum there were slight loss of Purkinje cell and many torpedos were seen. There were demyelination and fibrirally gliosis in the cerebellar white matter except the hilus of dentate nucleus. The transverse pontocerebellar fibers were degenerated and fibrirally gliosis was seen there. The inferior olivary nuclei showed neuronal loss and astrocytosis. But the degeneration of the olivo-ponto-cerebellar system in this case was not so severe as the typical case of OPCA. In the spinal cord there was depletion of nerve cells in the intermediolateral nuclei and Onufrowitz nuclei. Slight neuronal loss and many spheroids were observed in the anterior horns and there was demyelination in the corticospinal tracts.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of multiple system atrophy with many Lewy bodies--striatonigral degeneration, olivo-ponto-cerebellar atrophy and autonomic nerve nucleus involvement in the spinal cord]. 303 91

In the present paper we explore in some detail the hypothesis that the presence of familial aggregations in 10-15% of Parkinson's disease cases is due in great part to the existence of well-defined familial subsets, rather than to chance occurrences. We describe the clinical and genetic characteristics of the two main subsets: "Essential tremor-related Parkinsonism" and the "Familial akineto-rigid Syndrome" previously identified. The former type of Parkinsonism is associated at random, but with increased frequency, to an autosomal dominant disorder, usually essential tremor but occasionally OPCA. Two possible susceptibility factors were uncovered in this entity: an increased incidence of familial hyperthyroidism (augmentor factor) and a decreased incidence of the generally frequent HLA Haplotypes A1B8 or A2B5 (Protective factors). The other presentation, the "familial akineto-rigid syndrome", appears to be a definite disease entity with an autosomal recessive mode of inheritance (normal parents, increased incidence of identical parkinsonism in sibs, increased consanguinity rate in parents). This newly defined disorder deserves much further genetic and biochemical analysis.
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PMID:Familial subsets in idiopathic Parkinson's disease. 671 12

A considerable proportion of patients with Parkinson's disease report having affected relatives. However, anamnestic data obtained from probands on the occurrence of secondary cases among their relatives are of limited value. In considering the possible role of heredity in Parkinson's disease it is necessary to carefully distinguish between the disease and other disorders such as essential tremor and olivopontocerebellar atrophy which may manifest parkinsonian features. Controlled family studies have shown only a very slight excess of secondary cases among index siblings as compared to spouse siblings. The concordance rate for Parkinson's disease among identical twins is extraordinarily low and does not significantly exceed that among fraternal twins or that expected from the prevalence rate among siblings found in the controlled family studies. The available evidence indicates that heredity plays no significant role in the etiology of Parkinson's disease. Consequently the disease must be considered to be acquired.
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PMID:Is Parkinson's disease acquired or inherited? 671 13

The clinical features of 36 patients with late onset cerebellar ataxia of unknown cause are described. Overall, the age of onset ranged from 30 to 74 years and there was a significant excess of males. The patients were divided into 3 groups on clinical grounds. The first was composed of 12 cases in whom truncal ataxia was more marked than limb ataxia and onset was relatively late (mean 54.75 years); these correspond to the Marie-Foix-Alajouanine type of cerebellar degeneration. The second group contained 6 individuals who had prominent tremor in the upper limbs, both resting and during action. The 18 individuals in the 3rd group were clinically similar to patients previously reported as sporadic examples of olivopontocerebellar atrophy. It was this latter category which contributed to excess of males. None of the patients had similarly affected relatives. Both the 3rd groups, and all 36 cases were compared wih 37 other patients with dominantly inherited late onset cerebellar ataxia in order to establish which clinical features might indicate the presence of new dominant mutations in the "sporadic" cases. Optic atrophy ophthalmoplegia and pigmentary retinal degeneration were more frequent in the familial cases.
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PMID:"Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases. 727 77

We present an autopsied case of striatonigral degeneration (SND) combined with olivopontocerebellar atrophy (OPCA) with subcortical dementia and hallucinatory state. A Japanese woman without a remarkable family history showed hand tremor at the age of 35 years, followed by bradykinesia, muscle rigidity, orthostatic hypotension, neurogenic bladder and pyramidal signs. No obvious cerebellar symptoms were found. Various antiparkinsonian drugs were administered, but were not markedly effective for the parkinsonism. She developed a mild dementia characterized by mild memory disturbance with preservation of orientation, slowing of thought processes, emotional lability toward sadness, impaired ability to manipulate acquired knowledge and poor calculating, and by the absence of aphasia, apraxia and agnosia. The features in this patient were consistent with those seen in subcortical dementia. She also had auditory hallucinations. MRI revealed hypointense T2 signals in the putamina and substantia nigra. T1-weighted MRI demonstrated atrophy of both the pons and cerebellum in addition to atrophy of the putamina and substantia nigra. EEG showed slowing of background activity. She died of cardiac failure at the age of 47. Autopsy disclosed brain stem tegmental atrophy, SND, OPCA and many glial cytoplasmic inclusions in the central nervous system, but well-preserved cerebrum. We discuss the relationship between the psychiatric symptoms and pathologic findings of brain stem tegmentum.
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PMID:Striatonigral degeneration combined with olivopontocerebellar atrophy with subcortical dementia and hallucinatory state. 755 Jun 4

Genetic studies have suggested homogeneity between the Baltic-type and Mediterranean-type progressive myoclonic epilepsy. Magnetoencephalography was applied to elucidate the mechanism underlying the giant evoked responses in cortical reflex myoclonus. A new concept of negative myoclonus mediated by cortical reflex mechanism was proposed. Cortical myoclonus was demonstrated in various neurodegenerative or metabolic disorders, such as presenile or senile dementia, olivopontocerebellar atrophy, and myoclonus epilepsy associated with ragged-red fibres. Myoclonus in corticobasal degeneration is especially noteworthy because it has clinical and electrophysiological features of cortical reflex myoclonus, but its latency is shorter compared with the conventional cortical reflex myoclonus. Clinical features of 'palatal myoclonus' were reported by the name of 'palatal tremor'.
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PMID:Myoclonus. 758 53


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