Clinical and Electronystagmographic findings in Friedreich's Ataxia

La, Monday; Lemieux, Bernard; H, St Vincent; Barbeau, A.

doi:10.1017/s031716710002480x

Cited by 18 publications

(12 citation statements)

References 4 publications

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“…None of the patients has shown clinical evidence of involvement of the vestibular and oculomotor pathways except nystagmus. Although clinical (Tyrer, 1975), electrophysiological (Monday et al, 1978;Kirkham et al, 1979) andpathological (Urich et al, 1957;Boudin et al, 1972;Oppenheimer, 1979) evidence of involvement of vestibular and oculomotor pathways has been shown in several patients with Friedreich's ataxia, correlations between the clinical findings and the anatomical lesions have been rarely made. This could be related partly in some instances to incomplete examination or minimal anatomical involvement at the time of examination or death.…”

Section: Discussionmentioning

confidence: 99%

The neuropathology of “typical” Friedreich's ataxia in Quebec

Lamarche

Lemieux

Lieu

1984

Can. J. Neurol. Sci.

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We present the pathological data from the autopsies performed on 6 Friedreich's disease patients since the start of the Quebec Cooperative Study. All patients met the strict diagnostic criteria of the QCSFA. The anatomical lesions found in the peripheral and central nervous system were similar in all 6 cases and do not differ from those described in the literature. The clinical findings correlate closely with the histological lesions found in the peripheral nervous system and spinal cord. The evidence of segmental demyelination and remyelination in the spinal ganglia and posterior roots further supports the dying-back axonopathy hypothesis.

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Section: Discussionmentioning

confidence: 99%

The neuropathology of “typical” Friedreich's ataxia in Quebec

Lamarche

Lemieux

Lieu

1984

Can. J. Neurol. Sci.

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“…Previous studies did not attempt to quantify the eye movement abnormalities to explore their use as measures of disease progress, nor compare the ocular motor dysfunction to other measures. These studies did not rigorously measure the VOR using the high-frequency head impulse test and therefore potentially under-diagnosed vestibular failure in these individuals (Monday et al, 1978;Ell et al, 1984;Monday et al, 1984;Spieker et al, 1995;Wessel et al, 1998).…”

Section: Ocular Motor and Visual Involvement In Frdamentioning

confidence: 99%

“…A consistent, severe, bilateral vestibulopathy was demonstrated. Previous studies have largely failed to identify this deficit because they used low frequency stimuli, such as caloric testing and rotation chairs (Monday et al, 1978;Ell et al, 1984;Monday et al, 1984;Spieker et al, 1995;Wessel et al, 1998). These methods of testing are inferior to head impulse testing, because the stimuli are not rapid enough to eliminate interference from other (slower) ocular motor systems (Halmagyi et al, 1990).…”

Section: Vormentioning

confidence: 99%

458: Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich Ataxia

Fahey

White

Cremer

et al. 2008

Journal of Clinical Neuroscience

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Purpose: To explore the utilisation patterns of IVIG across different regions of New Zealand (NZ), and to audit the appropriateness of its use in a subset of patients.Methods: We accessed NZ Blood Service and other data to determine the quantities of IVIG issued by each District Health Board (DHB) during 2004, and the indications. In a later prospective audit performed over 6 months we collected data on all utilisation in eight DHB. The indications for IVIG were checked for compliance with the Australian Health Minister's Advisory Council (AHMAC) and Auckland District Health Board (ADHB) guidelines.Results:Retrospective audit: The rates at which IVIG was prescribed varied 11-fold across the different DHB, from 100.5g/1000 population in Capital & Coast DHB to 8.8g/ 1000 in Nelson-Marlborough DHB. The Auckland DHB (and to a lesser extent some other DHB) provided substantial amounts of IVIG to treat patients resident in other DHB. Eccentric patterns of utilisation (e.g. obstetric) were found in some regions.Prospective audit: We captured 466 treatment episodes. Primary antibody deficiency was by far the most frequent diagnosis. Five diagnoses accounted for 69% of the total IVIG utilisation. 80.6% of the diagnoses were in AHMAC category 1 (convincing evidence of benefit) and 71.5% were approved diagnoses in the ADHB guidelines. Compliance with the two sets of guidelines varied significantly across the different DHB.Conclusion: A limited set of disorders accounts for most of the IVIG prescribed in NZ. The wide variation in the patterns of utilisation in different regions is probably due to a range of factors and could usefully be studied further. There is almost certainly under-and overutilisation in some regions for certain diagnostic categories. Up-todate, evidence-based guidelines and a rigorous authorisation process have the potential to promote appropriate utilisation.Purpose: Nerve dysfunction is a common side effect of oxaliplatin chemotherapy, typically occurring in a dosedependent manner, so that the higher the dose and the longer exposure time, the more likely neuropathy is to occur. Immediately after administration of oxaliplatin, patients report sensory symptoms, such as paraesthesia in the hands triggered or aggravated by cold exposure.Methods: To investigate the pathophysiology of oxaliplatin-induced neurotoxicity, nerve excitability studies were undertaken on sensory axons before and after individual paired treatment cycles. Stimulus responses, strength-duration time constant (SDTC), threshold electrotonus (TE), recovery cycles and current-threshold relations were recorded from a total of 198 cycles of therapy (cycle range: 1-12) in 42 patients.Results: From the 77 paired cycles, using pre-infusion data from each cycle as the controls, refractoriness decreased significantly by 6.9 ± 2.7% (p < 0.01), relative refractory period (RRP) was shortened by 1.13 ± 1.0 ms (p < 0.01), superexcitability decreased by 1.4 ± 0.5% (p < 0.01) and TE hyperpolarizing (90-100 ms) increased by 4.9 ± 2.5% (p < 0.05) (mean di...

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“…Other rare central vestibular signs observed in caloric testing were premature reversal and perverted nystagmus after caloric stimulation. Premature caloric reversal has been reported in Friedreich's ataxia [2,3] or Arnold-Chiari malformation [4], but premature caloric reversal and perverted caloric induced nystagmus associated with brain tumor originating from the floor of the fourth ventricle have not previously been described. We describe a patient with a tumor originating in the floor of the fourth ventricle who presented with premature reversal after cold stimulation on one side and perverted nystagmus after cold stimulation of the other side.…”

Section: Introductionmentioning

confidence: 99%

Unusual caloric responses in a patient with a fourth ventricular ependymoma

Kim

Lee

et al. 2011

Neurol Sci

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The caloric test is probably the most widely used clinical test of vestibular function. A unilateral decrease in response to cold and warm water reliably indicates a unilateral peripheral vestibular lesion. Central signs on caloric testing are less common but important to recognize because they are often associated with lesions of the brainstem. We describe a patient with a tumor originating in the floor of the fourth ventricle who presented with premature reversal after cold stimulation on one side and perverted nystagmus after cold stimulation of the other side.

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Clinical and Electronystagmographic findings in Friedreich's Ataxia

Cited by 18 publications

References 4 publications

The neuropathology of “typical” Friedreich's ataxia in Quebec

The neuropathology of “typical” Friedreich's ataxia in Quebec

458: Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich Ataxia

Unusual caloric responses in a patient with a fourth ventricular ependymoma

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