11/34. Unusual CT and MRI findings in palatal myoclonus.A 23-year-old man suffered from palatal myoclonus for 2 years. It had appeared one week after a minor head trauma. MRI and basal cisternography revealed a localized atrophy of the left paramedian part of the medulla, encroached upon the left vertebral artery. clonazepam treatment was beneficial. This particular case is discussed in relation to etiopathogenesis and other causes of palatal myoclonus.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
12/34. Segmental ballistic movement overflow myoclonus: a clinical, electromyographic, and pharmacologic evaluation.A 27-year-old man presented with a sporadic, nonprogressive, right-sided, segmental movement disorder that had started at the age of 2 years. Ballistic movement overflow myoclonus was diagnosed clinically and by surface electromyography. Special investigations did not detect anything except atrophy of the left temporal lobe on CT scan. The movement intensity was attenuated by alcohol but was minimally affected by high doses of oral propranolol (320 mg daily), clonazepam (36 mg daily), or trihexyphenidyl (32 mg daily). High-dose intravenous biperidine (10 mg) resulted in dramatic improvement, but with unacceptable side effects. The possible role of a cholinergic disturbance in generating myoclonus is discussed.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
13/34. Progressive encephalopathy in children with acquired immune deficiency syndrome.We are reporting the cases of four children with a diagnosis of acquired immune deficiency syndrome (AIDS) who demonstrated a progressive encephalopathy manifested by loss of motor milestones or intellectual abilities, and weakness with pyramidal tract signs. Two patients were ataxic. One child was cortically blind and suffered myoclonic jerks before his death. Two of the patients had isolated seizures at some time during the disease course. Two patients developed secondary microcephaly and all four patients showed cortical atrophy on computed tomographic scanning. Three of the patients died. Postmortem neuropathological findings included gross cortical atrophy, microglial nodules, and intranuclear inclusions, as are described in the subacute encephalitis reported in adult AIDS patients. We propose that the possible pathogenetic mechanisms of this encephalopathy include opportunistic or persistent viral infection of the brain.- - - - - - - - - - ranking = 2keywords = atrophy (Clic here for more details about this article) |
14/34. Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder.We report a family with branchial myoclonus, spastic paraparesis, and cerebellar ataxia in which six members were affected in two generations and the inheritance appeared to be autosomal dominant. Age at onset ranged from 40 to 50 years. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed by truncal ataxia and spastic paraparesis in most patients. CT and MRI revealed mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord. The pons appeared normal and the olives not hypertrophic. CSF studies revealed severe reduction of the serotonin metabolite 5-hydroxyindoleacetic acid. Treatment with 5-hydroxytryptophan and carbidopa at highest tolerated dose mildly improved ataxia but did not modify the myoclonus. Treatment with anticholinergics, benzodiazepines, phenytoin, valproate, carbamazepine, and baclofen was unsuccessful. The clinical symptoms were progressive, leading to death or severe disability 5 to 10 years after the onset of the disease.- - - - - - - - - - ranking = 2keywords = atrophy (Clic here for more details about this article) |
15/34. Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family.We describe a family showing dentatorubral-pallidoluysian atrophy. Three patients appeared through three successive generations and displayed a wide variety of clinical pictures. The male proband with onset in childhood showed progressive myoclonus epilepsy syndrome. The father experienced cerebellar ataxia, myoclonus, and mild dementia starting in middle age; the paternal grandmother had progressive symptoms of cerebellar ataxia, choreiform movements, and dementia, but neither myoclonus nor epilepsy in senescence. Neuropathologic examination of two patients, the proband and the paternal grandmother, revealed combined degeneration of the dentatorubral and pallidoluysian systems and obvious degeneration involving the striatum in the proband and the cerebellar cortex in the grandmother. The present study indicates that this disease can include many clinical and pathologic variants even in the same family.- - - - - - - - - - ranking = 5keywords = atrophy (Clic here for more details about this article) |
16/34. Skeletal myoclonus in olivopontocerebellar atrophy: treatment with trihexyphenidyl.We studied two patients with nonfamilial olivopontocerebellar atrophy with skeletal myoclonus. Palatal or skeletal myoclonus is probably not a coincidental finding but another manifestation of the underlying disease. In both cases, the myoclonus was suppressed by administration of trihexyphenidyl, indicating a cholinergic disorder.- - - - - - - - - - ranking = 19725.255894228keywords = olivopontocerebellar atrophy, olivopontocerebellar, atrophy (Clic here for more details about this article) |
17/34. Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. A case report with biochemical studies.A 55-year-old man is presented who developed severe multifocal myoclonus and tonic clonic seizures in his early thirties, and progressive limb weakness in his mid forties, when a ragged red fibre myopathy was diagnosed. He went on to develop a distal motor neuropathy and respiratory failure. respiratory function tests indicated respiratory failure secondary to respiratory muscle weakness and a central hypoventilation syndrome. CT scan revealed brain stem atrophy and brain stem evoked responses were abnormal. A sural nerve biopsy showed severe axonal degeneration. Cytochrome difference spectra and polarographic studies on isolated intact muscle mitochondria were normal. This study reports the association of respiratory failure and sleep apnoea with Fukuhara's syndrome and presents biochemical data suggesting that the mitochondrial respiratory chain may be intact in some patients with this syndrome.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
18/34. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
19/34. Hereditary myoclonus and progressive distal muscular atrophy.myoclonus occurs in a variety of pathological conditions, some inherited. We recently evaluated 3 members of a louisiana-texas family with an autosomal dominant disorder manifested by adult-onset, generalized, stimulus-sensitive myoclonus and slowly progressive distal muscle weakness and wasting. The analyses of cerebrospinal fluid homovanillic acid and 5-hydroxyindoleacetic acid before and after probenecid provided some evidence of impaired turnover of central dopamine and serotonin. Treatment with clonazepam resulted in complete and lasting improvement of the myoclonus. A postmortem examination in 1 member of the family revealed chiefly neuronal degeneration of the anterior horn cells, Clark's nucleus, and the lower cranial nerve nuclei. A similar syndrome has not previously been reported.- - - - - - - - - - ranking = 4keywords = atrophy (Clic here for more details about this article) |
20/34. Cherry-red spot-myoclonus syndrome.A 21-year-old woman had typical clinical and biochemical findings of the cherry-red spot-myoclonus syndrome. She had 20/50 acuity in each eye, flutter-like ocular oscillations, rebound nystagmus, and transient vertical dissociation. Cherry-red maculas and optic atrophy were present. Although electroretinographic signals were normal, visual evoked potentials were almost absent. Levels of neuraminidase were significantly reduced in cultured ebroblasts from the patient and her parents, while lysosomal inclusions probably containing oligosaccharides were found in her conjunctival fibroblasts.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
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