Progressive Ophthalmoplegia

Rosenberg, Roger N.

doi:10.1001/archneur.1968.00480040028002

Cited by 51 publications

(5 citation statements)

References 41 publications

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“…Ocular motility may also be spared even when pathological changes are seen in the oculomotor nuclei {3, 111. There have been few reports of ophthalmoparesis in ALS 16,7,17,19,201 and we have found no prior reports of nystagmus in a case verified postmortem. We describe two patients with ALS proved postmortem and nystagmus; in one there was gaze paresis as well.…”

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confidence: 55%

Nystagmus in motor neuron disease: Clinicopathological study of two cases

Kushner

Parrish

Burke

et al. 1984

Annals of Neurology

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Two patients with amyotrophic lateral sclerosis proved postmortem had nystagmus in addition to typical clinical signs of motor neuron disease. The first patient had gaze-evoked rotatory nystagmus that was followed by horizontal nystagmus in the primary position with supranuclear paresis of horizontal gaze and upgaze. The second patient had rotatory nystagmus that was evoked by lateral gaze, with normal range of eye movements. Nystagmus is so rare in motor neuron disease that these observations may imply another disease, but postmortem examination did not provide any other explanation. These two cases add to the increasing evidence that motor neuron disease comprises a heterogeneous group of disorders.

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confidence: 55%

Nystagmus in motor neuron disease: Clinicopathological study of two cases

Kushner

Parrish

Burke

et al. 1984

Annals of Neurology

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“…Although the clinical phenotype in SMA consists mainly of predominately proximal limb weakness with some degree of bulbar and respiratory weakness, 2 there are individual case reports from the era before the availability of genetic testing, suggesting involvement of extraocular muscles in some patients. [3][4][5][6] Motivated by the fact that quantitative oculomotor recordings can reveal subtle extraocular muscle weakness in certain neuromuscular disorders [7][8][9] or help demonstrate intact eye movements in other cases, 10,11 we aimed to determine whether there are subclinical oculomotor abnormalities in SMA subjects by analyzing the metrics of saccadic eye movements with video-oculography.…”

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confidence: 99%

Preserved eye movements in adults with spinal muscular atrophy

et al. 2021

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Introduction Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype. Methods We investigated oculomotor function by testing saccadic eye movements of 15 patients with SMA. Their performance was compared with that of age‐matched healthy controls. Horizontal rightward and leftward saccades were recorded by means of video‐oculography, whereas subjects looked at light‐emitting diode targets placed at ±5°, ±10°, and ±15° eccentricities. Results No differences in saccade amplitude gains, peak velocities, peak velocity‐to‐amplitude ratios, or durations were observed between controls and patients. More specifically, for 5° target eccentricities, patients had a mean saccadic peak velocity of 153°/s, whereas for 10° and 15° these values were 268°/s and 298°/s, respectively. The corresponding mean peak velocities of the control group were 151°/s, 264°/s, and 291°/s. Discussion Our results indicate that patients with SMA perform fast and accurate horizontal saccades without evidence of extraocular muscle weakness. These quantitative oculomotor data corroborate clinical experience that neuro‐ophthalmic symptoms in SMA are not common and, if present, should prompt suspicion for an alternative neuromuscular disorder.

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“…However, it has become increasingly difficult to explain chronic progressive external ophthalmoplegia as being purely and simply a myopathy of the extraocular muscles. Involvement of other facial muscles, limb musculature, cerebellum, spinal tracts, myocardium, endocrine glands, hearing, and probably most frequent of all, retina, with pigmentary changes and chorioretinal atrophy has amply been described in the recent literature (Alfano & Berger 1957;Kearns & Sayre 1958;Jager et al 1960;Drachman 1968;Rosenberg et al 1968;Daroff 1969;Lowes 1975). Endocrine abnormalities have been reported by Lundberg Abnormal mitochondria in muscle tissue have been demonstrated by Gonatas (1967), Mair & Tom6 (1972), Morgan-Hughes & Mair (1973), Iamaccone et al (1974) and Schlote & Korner (1976).…”

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confidence: 95%

Progressive External Ophthalmoplegia

Reske‐Nielsen

Lou

Lowes

1976

Acta Ophthalmologica

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Muscle biopsies from four patients with chronic progressive external ophthalmoplegia and pigmentary retinopathy with symptoms and signs from other organs were studied by means of light and electron microscopy. Examination revealed a marked proliferation of abnormal mitochondria with a degeneration of both muscle and nerve tissue. Blood levels of lactate and pyruvate were measured and abnormal values of these metabolites were found in the three patients with the most pronounced ultrastructural changes. On the basis of these findings it is suggested that there is a biochemical defect in pyruvate-lactate metabolism which could be responsible for the marked proliferation of the abnormal mitochondria.

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Progressive Ophthalmoplegia

Cited by 51 publications

References 41 publications

Nystagmus in motor neuron disease: Clinicopathological study of two cases

Nystagmus in motor neuron disease: Clinicopathological study of two cases

Preserved eye movements in adults with spinal muscular atrophy

Progressive External Ophthalmoplegia

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