The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies

Kartsounis, L. D.; Troung, D. D.; Morgan‐Hughes, J. A.; Harding, A. E.

doi:10.1001/archneur.1992.00530260058020

Cited by 45 publications

(50 citation statements)

References 15 publications

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“…Memory seems to have been better preserved in our patient than in previously reported cases, in whom both immediate (Lang, 1995;Turconi, 1999;Sartor, 2002;Bosbach, 2003) and delayed recall (Bosbach, 2003) as well as recognition impairments (Kartsounis, 1992;Lang, 1995) were noted. To our knowledge, none of the previous studies compared verbal and visual material learning in patients with MID.…”

Section: Discussioncontrasting

confidence: 64%

“…This profile is consistent with the earlier misdiagnosis of developmental dyslexia as the other areas of cognition were well preserved. In previous reports of patients with mitochondrial disorders, language function was either not reported (Lang et al, 1995;Turconi, 1999;Kauffman, 2004) or impaired in some cases (Kartsounis, 1992;Sartor, 2002;Bosbach, 2003).…”

Section: Discussionmentioning

confidence: 91%

“…Diagnosis of mitochondrial dementia (Finsterer, 2009) was excluded. Mild and/or focal cognitive deficits were also described in previous reports of patients with mitochondrial disease (Kartsounis et al, 1992;Turconi et al, 1999;Sartor et al, 2002;Bosbach et al, 2003) and only in few reported cases mitochondrial dementia was diagnosed (Lang et al, 1995). MELAS patients are often described in the literature as those most cognitively impaired, but often they were not always diagnosed with mitochondrial dementia as they presented with focal cognitive impairments (Lang et al, 1995;Sartor et.…”

Section: Discussionmentioning

confidence: 94%

“…Attention deficits were attributed to the patients with MID in most of previous reports (Kartsounis, 1992;Lang, 1995;Turconi, 1999;Sartor, 2002;Bosbach, 2003).…”

Section: Discussionmentioning

confidence: 96%

“…Most data on cognitive function in mitochondrial disease come either from studies of patients with MELAS (Mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes) or from mixed patient cohorts (Kartsounis et al, 1992;Turconi et al, 1999;Kaufmann et al, 2004). Slowed information processing seems to be the most prominent finding in a majority of cases (Finsterer, 2009), followed by a variety of focal cognitive deficits (visuospatial, language, memory impairment) and executive dysfunction (Kartsounis et al, 1992;Turconi et al, 1999;Sartor et al, 2002;Bosbach et al, 2003). It is unclear to what extent these findings are applicable to patients with MERFF.…”

Section: Introductionmentioning

confidence: 99%

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Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

Domańska¹,

Sitek²,

Schinwelski³

et al. 2015

Journal of Epileptology

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SUMMARYIntroduction. Myoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed. Description of case. We present the case of an 18-year-old patient with progressive neurological symptoms such as multifocal myoclonus, cerebellar syndrome (gait impairment, intention tremor, ataxia and dysmetria). The diagnosis of MERRF was confirmed at the age of 16. Neuropsychological examination showed slowing of verbal learning and deficient spontaneous recall with improvement on recognition as well as low verbal fluency. Discussion. The authors discuss differential diagnosis of mitochondrial diseases (MIDs) in respect to cognitive function impairment and, in particular, to dementia: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), KSS (Kearns-Sayre syndrome), NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa and ptosis). The authors emphasize importance of comprehensive neuropsychological assessment in differential diagnosis of MIDs. Conclusion. Mild and selective cognitive impairment was identified. The type and degree of cognitive function impairment is not sufficient to diagnose dementia in this particular case of MERRF. Comprehensive neuropsychological assessment is crucial in MID in order to provide the patient with useful recommendations for education planning.

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Section: Discussioncontrasting

confidence: 64%

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 94%

“…Attention deficits were attributed to the patients with MID in most of previous reports (Kartsounis, 1992;Lang, 1995;Turconi, 1999;Sartor, 2002;Bosbach, 2003).…”

Section: Discussionmentioning

confidence: 96%