Neuro-otological and Neuropathological Findings in two Cases with Machado-Joseph Disease

Murofushi, Toshihisa; Mizuno, Masahiro; Hayashida, Takumi; Yamane, Masaaki; Osanai, Ryuichi; Ito, Ken; Kaga, Kimitaka

doi:10.3109/00016489509125211

Cited by 18 publications

(16 citation statements)

References 14 publications

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“…This case supports the finding that duration of the disease may be the most important factor in determining the presence of ophthalmoplegia, regardlesss of age at onset. Gaze-evoked nystagmus, saccadic hypometria, and lack of response to cold caloric stimuli have also been noted in patients with SCA3/ MJD [3,4,7,8]. The oculomotor phenotype of our patient is therefore consistent with that previously described.…”

supporting

confidence: 78%

“…Disease duration greater than 10 years appears to be associated with developing ophthalmoplegia, dysphagia, and amyotrophy [2]. The eye movement abnormalities in our patient mirror those found in the two patients described previously [3,4], with disease duration longer than 10 years. This case supports the finding that duration of the disease may be the most important factor in determining the presence of ophthalmoplegia, regardlesss of age at onset.…”

supporting

confidence: 66%

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A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

Egan

Camicioli²,

Popovich³

2000

Eur Neurol

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supporting

confidence: 78%

supporting

confidence: 66%

A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

Egan

Camicioli²,

Popovich³

2000

Eur Neurol

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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: 98%

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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“…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%