EEG and evoked potential findings in mitochondrial myopathies

Smith, S. J. M.; Harding, A. E.

doi:10.1007/bf00839969

Cited by 18 publications

(9 citation statements)

References 22 publications

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“…Similar conclusions were drawn from other relevant studies, in which both cochlear and retrocochlear involvement has been considered probable [4,5]. The same is supported in reports from autopsy cases [16,17] and in studies including ABR measurements [18,19]. It appears thus that the exact nature and origin of hearing loss is not yet fully understood, due to the diversity of the clinical and audiological findings.…”

Section: Discussionsupporting

confidence: 74%

Cochlear Dysfunction in Patients with Mitochondrial Myopathy

Korres¹,

Balatsouras

Manta

et al. 2002

ORL

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The present study investigates cochlear function in a group of 11 patients suffering from mitochondrial myopathy with normal or near normal audiometric pure tone thresholds, in most of whom diagnosis was histologically confirmed. A complete ENT, neurologic and audiological work-up, including transiently evoked otoacoustic emissions, was performed in all patients in order to estimate cochlear function. Compared to control subjects, most patients had absent otoacoustic emissions (OAE) in spite of normal hearing, indicating cochlear dysfunction. These findings suggest that subclinical involvement of the cochlea is quite common in patients with mitochondrial myopathy. Damage of the cochlea can be explained on the grounds of its increased metabolic rate, resulting in failure of the stria vascularis and the outer hair cells. Otoacoustic emissions might provide a useful tool in the clinical work-up and follow-up of these patients.

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Section: Discussionsupporting

confidence: 74%

Cochlear Dysfunction in Patients with Mitochondrial Myopathy

Korres¹,

Balatsouras

Manta

et al. 2002

ORL

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“…Only three of 28 examined patients without any clinical CNS signs have an abnormal EEG, whereas 24 patients with clinical evidence of CNS involvement show no EEG abnormalities. These data do not support the theory that EEG examination may have a role in the detection of subclinical CNS involvement [31]; also, given the number of "false negative" tests, they somehow question the specificity of EEG as a diagnostic tool in mitochondrial disorders.…”

Section: Discussionmentioning

confidence: 75%

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

Sciacco

Prelle

Comi

et al. 2001

Journal of Neurology

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Mitochondrial disorders are human genetic diseases with extremely variable clinical and genetic features. To better define them, we made a genotype-phenotype correlation in a series of 207 affected patients, and we examined most of them with six laboratory examinations (serum CK and basal lactate levels, EMG, cardiac and EEG studies, neuroradiology). We found that, depending on the genetic abnormality, hyperckemia occurs most often with either chronic progressive external ophthalmoplegia (CPEO) and ptosis or with limb weakness. Myopathic EMGs are more common than limb weakness, except in patients with A8344G mutations. Peripheral neuropathy, when present, is always axonal. About 80% of patients with A3243G and A8344G mutations have high basal lactate levels, whereas pure CPEO is never associated with increased lactate levels. Cardiac abnormalities mostly consist of conduction defects. Abnormalities on CT or MRI of the brain are relatively common in A3243G mutations independently of the clinical phenotype. Patients with multiple mtDNA deletions are somehow "protected" against the development of abnormalities with any of the tests. We conclude that, despite the phenotypic heterogeneity of mitochondrial disorders, correlation of clinical features and laboratory findings may give the clinician important clues to the genetic defect, allowing earlier diagnosis and counselling.

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“…Increased latency and interlatency times, are steady diagnostic findings in mitochondrial myopathy, though not yet statistically confirmed (Smith & Harding 1993, Sartucci et al 1993). Since mitochondrial diseases represent an heterogeneous group of disorders sharing the common feature of mitochondrial abnormalities, this is expected mainly in syndromes with CNS involvement, such as KSS, MERRF and MELAS syndromes.…”

Section: Discussionmentioning

confidence: 91%

Audiological assessment in patients with mitochondrial myopathy

Korres

Manta

Balatsouras

et al. 1999

Scandinavian Audiology

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Mitochondrial myopathies comprise a heterogeneous group of disorders characterized by the presence of ragged red fibres in muscle biopsy. The present study investigates the audiological features in a group of 14 patients in whom diagnosis was histologically confirmed. A complete ENT, neurological and audiological work-up was performed for every patient, including measurement of brainstem auditory evoked potentials (BAEPs). Most patients presented with a varying degree of hearing loss and occasional abnormalities of the latencies and interpeak latencies of the BAEPs, but only the increased latencies of waves I and V have been statistically confirmed. Audiological data suggest non-specific involvement at one or more sites along the auditory pathway.

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EEG and evoked potential findings in mitochondrial myopathies

Cited by 18 publications

References 22 publications

Cochlear Dysfunction in Patients with Mitochondrial Myopathy

Cochlear Dysfunction in Patients with Mitochondrial Myopathy

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

Audiological assessment in patients with mitochondrial myopathy

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