Electro‐oculographic findings in Machado‐Joseph disease

Dawson, David M.; Feudo, Peter; Zubick, Howard H.; Rosenberg, Roger N.; Fowler, Hilton L.

doi:10.1212/wnl.32.11.1272

Cited by 26 publications

(9 citation statements)

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“…Machado-]oseph's disease (9), spinocerebellar degeneration (31), and Gerstmann-Sträussler-Scheinker disease (11). However, in our patients, the early-onset, lack of progression after childhood, and the absence of any non-oculomotor neurological signs in most of our cases are not compatible with these conditions.…”

Section: Clinical Aspectscontrasting

confidence: 68%

Eye Movements in a Familial Vestibulocerebellar Disorder

et al. 1993

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Eye movement abnormalities consisting of poor or absent smooth pursuit and vestibulo-ocular reflex suppression, gaze-paretic and rebound nystagmus, slow build-up of optokinetic nystagmus, mildly hyperactive vestibulo-ocular reflex, and a high incidence of strabismus were inherited in an autosomal dominant fashion in 10 members of a non-consanguineous English caucasian family. The onset was in early childhood, but was not congenital. In 7 cases there was no tremor, dizziness, consistent ataxia, or other cerebellar signs that are often associated with these ocular motor deficits, and apart from strabismus, patients were asymptomatic. Magnetic resonance imaging of the propositus was normal. After childhood there appears to be no progression, with the oldest affected member being 40 years. Two members had been prone to falling in childhood, and one admitted to dizziness when tired. This condition, which is probably benign, has not been previously described and may represent a very mild variant of episodic ataxia or a new vestibulocerebellar syndrome.

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Section: Clinical Aspectscontrasting

confidence: 68%

Eye Movements in a Familial Vestibulocerebellar Disorder

et al. 1993

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“…If saccadic slowing is caused by central oculomotor pathology in the brain stem, the patient shows gaze nystagmus, unless the lesion is confined to a small region or the range of eye movement is severely restricted. For example, neurological examinations of patients with Machado-Joseph disease, a neurodegenerative disease with oculomotor abnormalities that include slow saccades [39] and neuronal loss in the oculomotor nuclei, show a high incidence of gaze-evoked nystagmus [14,30,33,39] (65.1%, according to Shimizu et al [39]). There are several central nervous system diseases that mainly affect saccade velocity, for example Niemann-Pick disease [5,10,34,45], Gaucher's disease [10,43] and progressive supranuclear palsy [12,40].…”

Section: Discussionmentioning

confidence: 99%

Saccadic slowing in myotonic dystrophy and CTG repeat expansion

Osanai

Kinoshita

Hirose

1998

Journal of Neurology

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Recent studies have shown that the severity of the several clinical symptoms of myotonic dystrophy (DM) is closely related to the size of a CTG triplet repeat in the gene encoding myotonin protein kinase. Although neurotological findings, including saccadic slowing in patients with DM, have been reported, the relationship between these neurotological findings and elongation of the CTG triplet repeat has not been discussed to our knowledge. We made a case-control study that compared the saccadic velocity in 13 patients with DM and in 13 controls matched for age and sex. We also examined the correlation between the saccadic velocity in DM patients and the size of the expanded DNA fragment (EF) obtained by Southern blot analysis with EcoRI or BglI. We found: (1) The primary eye position was normal in 9 of 12 patients. Divergent strabismus was present in 3 patients. (2) The range of ocular movement was normal in 2 patients, nearly normal in 5 and minimally limited in the other 5. (3) Only 1 patient had lateral gaze nystagmus, which was fine and transient. (4) The horizontal saccades were essentially normometric in 11 of the 13 patients, slightly hypometric in 1 and obviously hypometric in 1. These last 2 patients had the second longest and longest EF sizes. The vertical saccades were essentially normometric in 8 of 12 patients, hypermetric in 3, and hypometric in the 1 with the longest EF size. (5) The saccadic velocity in the DM patients was significantly lower than that in the controls in the horizontal or vertical direction, the difference being more prominent in the horizontal direction. (6) The correlation coefficients between horizontal saccadic velocity and EF size, 0.801 (EcoRI) and 0.756 (BglI), had a strong negative correlation (P < 0.01 for both EcoRI and BglI). No statistically significant correlation was found between vertical saccadic velocity (upward and downward) and EF sizes. Although it was difficult to determine whether saccadic slowing was caused by central oculomotor system involvement or extraocular muscle atrophy, the absence of gaze-evoked nystagmus in almost all of the patients favours the latter. Our study shows that neurotological examinations that include a saccadic velocity test are very useful for detecting subtle eye movement abnormalities in DM and for quantitatively evaluating the clinical severity of DM.

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“…Neither showed responses in the caloric test, suggesting severe vestibular impairment. Previous studies found that poor or no caloric response was observed in MJD patients relatively frequently [3,5,7], but most of these evaluations done at least several years after initial symptom onset. Our present study clearly showed severe disturbance in the caloric test was the earliest phenomenon in genetically confirmed MJD.…”

Section: Discussionmentioning

confidence: 99%

“…Selective vulnerability is a major feature of MJD. Among neuronal structures, the vestibular system is known to be damaged [3][4][5][6][7], but little is known about precisely when vestibular dysfunction occurs. To find out, we evaluated caloric vestibular response in two patients with genetically confirmed MJD early on after initial symptom onset.…”

Section: Introductionmentioning

confidence: 99%