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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case is described of a woman of 26 suffering (like her mother, a brother and a sister) from a progressively degenerating cerebellar syndrome, at first considered to be hereditary cerebellar ataxia, but which, after action myoclonus appeared, was diagnosed as dyssynergia cerebellaris myoclonica (D.C.M.). Anatomical verification however revealed a syndrome of olivo-ponto-cerebellar atrophy comprising massive demyelinisation of the white matter of the cerebellum and of the cerebellopontine fibres; atrophy of the pontine nuclei; the cerebellar cortex itself was severely affected; moderate nigral lesions; marked spinal lesions of the cerebellospinal fasciculi and of the posterior columns; lesions of the anterior horns and of the bulbar nuclei; cortical chromatolysis. The fact that the dentate system remained unaffected, also noted in some cases of olivo-ponto-cerebellar atrophy with myoclonus, whilst in a number of other cases the lesion remains clinically silent, emphasises the difficulty in establishing an accurate correlation between myoclonus and dentate nucleus. Discussion of the nosological limits of D.C.M.: confirmed cases generally displayed lesions of the dentate system and hereditary degenerative spino-cerebellar lesions. The same clinical symptoms can be observed in cases which do not come under this classification--or even under that of degenerative conditions of the cerebellar system--and D.C.M. appears to be only a syndrome, the Ramsay-Hunt syndrome.
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PMID:[Familial olivo-ponto-cerebellar atrophy with myoclonus. Limits of cerebellar myoclonic dyssynergia (Ramsay-Hunt syndrome)]. 97 68

A case of progressive myoclonic epilepsy (P.M.E.) is described. The clinical picture consisted of epileptic seizures, myoclonus and slight mental deterioration associated with a severe progressive cerebellar syndrome. The disease had a course of almost 20 years. Histological studies of the C.N.S. showed severe loss of Purkinje cells, sligth regressive changes in both dentate and olivary nuclei, nerve cells atrophy of anterior horn motoneurons, degeneration of Goll's and Burdach's spino-olivary and anterior spino-cerebellar tracts. Features of cellular lipidosis and/or neuronal amiloid inclusions were not seen. The case was therefore classified in the group of degenerative P.M.E. Its peculiar pathologic aspects consisted of slight but diffuse brain stem regressive changes associated with systemic degeneration involving the spino-cerebellar pathways. The clinical features of our patient emphasize the problem of differential diagnosis between. P.M.E. and D.C.M. thought of by French authors to be an autonomous entity both clinically )severe cerebellar syndrome, intentional myoclonus, absence or late appearance of epilepsy, slight or absent mental deterioration) and anatomically (primary atrophy of the dentate system). However there are many cases, similar to the one reported, which have a clinical course suggesting a diagnosis of D.C.M., but which differ neuropathologically from Hunt's syndrome because of the absence of primary atrophy of the dentate system. These borderline cases give supporting evidence to the concept of continuity between classical P.M.E. and D.C.M., as well as to the authors' opinion that 1unt's syndrome must be classified as a varient of degenerative P.M.E.
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PMID:[Progressive myoclonic epilepsy: anatomo - clinical study of a sporadic case with a marked cerebellar symptomatology (author's transl)]. 123 66

A case of autoptically verified progressive subcortical gliosis (PSG) is reported. The 79 year old woman developed subacutely a right sided hemisyndrome and a cerebellar syndrome. Generalized action myoclonus of the left leg evolved into left sided Epilepsia partialis continua and dementia appeared. After a 6 month course the patient died of aspiration pneumonia. There was no indication of alcoholism or HIV-dementia neither clinically nor at autopsy. Morphologically the brain showed a diffuse proliferation of astrocytes in the subcortical white matter, thalamus, basal ganglia, brain stem and cerebellum. A severe neuronal dropout was found in medial thalamic neurons but Wernickes encephalopathy was ruled out. 21 cases of PSG confirmed by autopsy were found in the literature. Clinics, neuropathology and classification of PSG is discussed.
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PMID:[Progressive subcortical gliosis]. 193 41

Histological and ultrastructural findings observed throughout the nervous system and the extranervous organs in a case of sialidosis type I, also known as normosomatic group, are reported. The patient was a 22-year-old male with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence. Biochemical study showed an alpha-N-acetylneuraminidase deficiency in cultured fibroblasts. A complete and early autopsy was performed. Neuropathological study showed two prominent lesions: the first one was a fine cytoplasmatic vacuolation in several neurons of the cortex, basal ganglia and thalamus and the second one was a diffuse neuronal intracytoplasmic storage of lipofuscin-like pigment (LLP). As for the extranervous organs the main light and electron microscope findings were observed in the hepatocytes and in the Kupffer's cells, which showed an enlarged cytoplasm and lipopigment granules in different amount. Vacuoles containing dense lamellar bodies were found in tubular epithelial cells of the kidney. To our knowledge this is the first complete autoptic study of a case of sialidosis type I.
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PMID:Sialidosis type I: pathological study in an adult. 262 Apr 79

Thirteen patients with dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome) had full clinical and neurophysiological study as well as muscle biopsy. The patients had action myoclonus, generalised epileptic seizures, and mild cerebellar syndrome. The disease was inherited in an autosomal recessive pattern in five patients, and occurred as isolated cases in the remaining eight patients. The age at onset of symptoms ranged from 6 to 15 years (mean, 10.4 years). The EEG and polygraphic findings included normal background activity in most patients, spontaneous fast generalised spike-and-wave discharges, photosensitivity, no activation during slow sleep, and vertex and rolandic spikes in REM sleep. Results of muscle biopsy, performed an average of 14 years after onset of the disease, were normal and showed no mitochondrial abnormalities. These findings suggest that Ramsay Hunt syndrome is a condition with distinctive clinical and neurophysiological features and unrelated to mitochondrial encephalomyopathies.
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PMID:Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies. 210 13

A 22 year old patient with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence is described. The myoclonus began at the age of 18 years. Focal myoclonus could easily be elicited by voluntary and passive movements, and by touch and electrical stimulation of median nerve. Somatosensory evoked potentials showed a high voltage early component. Jerk-locked averaging of the EEG preceding action myoclonus detected an otherwise hidden, time-related, EEG spike. The myoclonus responded partially but clearly to L-5 hydroxytryptophan plus carbidopa treatment. Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III.
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PMID:Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult. 677 61

A 23-year-old man presented with a history characterized by a myoclonic syndrome developing over a period of seven years. Predominant symptoms were intention and activity myoclonus, generalized epileptic seizures occurring infrequently from the age of 20, a slowly progressive cerebellar syndrome first apparent at 19 years, and the sudden onset of loss of visual acuity at 19, which then partially regressed; optic atrophy and clinical and campimetric signs were suggestive of Leber's disease. Intellectual ability was not affected. E.E.G. records showed generalized spike-waves with photosensitivity, progressive reduction in basal rhythm, and sleep organization disturbances with focal abnormalities. Obvious clinical signs of muscle disease were lacking but muscle biopsy confirmed the presence of a mitochondrial myopathy (ragged-red fibers). An indefinite history of familial neurological disease was obtained. Diagnosis was established as myoclonic cerebellar dyssynergy with spastic hereditary ataxia and Leber's disease. Their association with a mitochondrial myopathy has been previously reported by Tsairis et al, Fukuhara et al, Fitzimons et al (familial case), and Niedermeyer et al (sporadic case). In spite of the non-specific nature of associated mitochondrial abnormalities, all these cases would appear to correspond to a single nosological entity.
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PMID:[Spinocerebellar degeneration, optic atrophy, epilepsy, myoclonus and mitochondrial myopathy: a case report (author's transl)]. 681 Apr 37

The clinical features of 11 families containing 73 individuals with dominantly inherited cerebellar ataxia of late onset are described. Many of the patients had physical signs in addition to cerebellar ataxia, which included dementia, supranuclear ophthalmoplegia, extrapyramidal dysfunction, optic atrophy, pigmentary retinal degeneration, myoclonus and deafness. These associated features were generally very variable within members of the same family. Intrafamilial correlation of age of onset and an analysis of clustering of clinical features within families using X2 tests suggested that there was little evidence of genetic heterogeneity in the eight kindreds where ophthalmoplegia, optic atrophy, dementia, or extrapyramidal signs were found in affected individuals. One of these families contained descendants of the 'Drew family of Walworth' described by Ferguson and Critchley in 1929. The three other families contained patients with clinically distinct syndromes which were: cerebellar ataxia with pigmentary retinal degeneration; a later onset (over 60 years) 'pure' cerebellar syndrome; and an ataxia disorder associated with myoclonus and deafness. A simple classification of the autosomal dominant cerebellar ataxias is proposed and discussed in relation to previous attempts to classify these disorders on clinical and pathological grounds.
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PMID:The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. 706 68

A patient developed dyssynergia cerebellaris myoclonica, following an epileptic attack at the age of 19 years, with the progressive onset of involuntary movements and a cerebellar syndrome. He was second of a family of six children in which the same affection was present in the older sister while the four others were not affected. The involuntary movements corresponded to krebs type III intentino myoclonus, to massive myoclonic movements, and Krebs type I fibrillary myoclonia. The E.E.G. changes were typical, particularly the constant reinforcement of epileptic potential by photic stimulation. Completely disabled at 35 years, the patient was hospitalized at age 51 and kept under observation for 18 months. The per os administration of 5-hydroxytryptophane (5-H.T.P.), 150 mg daily, without a decarboxylase inhibitor, resulted in a spectacular reduction of the myoclonic movements and a marked improvement in autonomy. The patient died at 53 years of age from deglutition disorders related to oropharyngeal myoclonus. Pathological examination revealed no abnormalities in the brain, particularly in the dentate nuclei and the superior cerebellar penduncles. The only lesions observed were in the spinal cord: atrophy and demyelinization of Goll's columns and of the posterior lumbar and dorsal roots, and slight atrophy of the lateral funiculi. This case raises the problem of the relationship between myoclonus and lesions of the dentate nucleus, observed in 13 out of 16 cases of anatomically confirmed D.C.M., and lesions of its efferent pathways, present in 8 cases out of 16. The case reported here is the only one with an isolated spinal cord lesion, apart from that of Bradshaw in which no lesion was found but the cord had not been examined. The improvement obtained with the precursor of serotonin, 5-H.T.P. in the Lance and Adams syndrome (in which the intention myoclonus is semiologically very close to that of D.C.M., whatever their respective lesions), suggests that pathogenic studies should be carried out along biochemical lines. Though all authors do not agree, many accept a disturbance in serotoninergic pathways in the genesis of intentional myoclonus. The improvement in clinical signs and symptoms obtained in the present case with low doses of 5-H.T.P. brings additional evidence in favor of this hypothesis.
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PMID:[Ramsay-Hunt's syndrome: a case report with pathological examination (author's transl)]. 729 43

Paraneoplastic cerebellar degeneration (PCD) is a rare complication of systemic cancer. PCD may present as a "pure", severe pan-cerebellar syndrome of subacute progression or be only one clinical feature in the setting of extensive CNS disease. The most characteristic form of "pure" PCD is associated with the presence of an anti-Purkinje cell antibody (AB), called anti-Yo, in patients with breast or ovarian cancer. The primary tumor is very often unknown when the cerebellar signs occur, and extensive investigations, including laparotomy or prolonged follow-up may be required to demonstrate its presence. More rarely, others AB than anti-Yo are discovered during PCD. Almost 50% of patients with "pure" PCD do not have circulating anti-neuronal AB. In the cases, the primary cancer is more often known and the clinical course of the cerebellar syndrome may be slower. Cerebellar degeneration may also occur during paraneoplastic encephalomyelitis. In this setting, the cerebellar signs which may be isolated at the onset, become associated with other signs of neuraxis involvement (limbic encephalitis, brainstem encephalitis, myelitis and particularly, subacute sensory neuronopathy) during the course of the disease. When a paraneoplastic encephalomyelitis is associated with a small cell lung cancer, an antineuronal AB called anti-Hu is frequently found. Finally PCD may be associated with the opsoclonus-myoclonus syndrome with the Lambert-Eaton syndrome.
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PMID:[Paraneoplastic cerebellar degeneration]. 786 50


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