Clinical and neuropathological findings in patients with TACO1 mutations

Seeger, Jürgen; Schrank, Bertold; Pyle, Angela; Stucka, Rolf; Lörcher, U.; Müller-Ziermann, Solvig; Schöser, Benedikt; Czermin, Birgit; Holinski‐Feder, Elke; Lochmüller, Hanns; Horvath, Rita

doi:10.1016/j.nmd.2010.06.017

Cited by 37 publications

(22 citation statements)

References 8 publications

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“…Leigh syndrome tRNA(Leu) [3] Leigh syndrome (8344, 8363) tRNA(Lys) [3] Deafness, epilepsy, ataxia tRNA(Ser) [29] Stroke, epilepsy, lactic acidosis COX-I [16] MELAS, encephalomyopathy COX-II [15,25] Myopathy COX-III [15] Myoglobinuria COX-III [14] Encephalomyopathy COX-III [13,18] nDNA Leigh syndrome SURF1 [3,6,20] Fatal encephalopathy SCO1 [19] Cardioencephalomyopathy SCO2 [3,10,31] Werdnig-Hoffmann disease SCO2 [27] Leigh syndrome, anemia, deafness COX10 [1,6] Leigh syndrome COX15 [5] Hypertrophic cardiomyopathy COX15 [2] Epilepsy C19orf79 [20] COX-deficiency NDUFA4 [23] Megaconial myopathy CHKB [12] Cognition ↓, dystonia, vision ↓ TACO1 [28] Encephalomyopathy FASTKD2 [11] No mutations described Isolated myopathy n.s. [17] Adult Leigh syndrome n.s.…”

Section: Disclosurementioning

confidence: 99%

Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Finsterer¹,

Kovács²,

Rauschka³

et al. 2015

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A b s t r a c t Objectives: Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) The family history was positive for diabetes (mother), CK elevation (brother), myalgias (brother), and proximal weakness of the upper limbs (mother). Work-up revealed hypoacusis, postural tremor and reduced tendon reflexes, recurrent mild hyper-CK-emia, neurogenic needle electromyography, and a muscle biopsy with mild non-specific changes. Biochemical investigations of the muscle homogenate revealed an isolated complex IV defect and reduced amounts of coenzyme Q (CoQ

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Section: Disclosurementioning

confidence: 99%

Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Finsterer¹,

Kovács²,

Rauschka³

et al. 2015

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“…Syndromic phenotypes due to mutations in nDNA‐located genes include the myo‐neuro‐gastro‐intestinal encephalopathy (MNGIE) ; leuko‐encephalopathy brain and spinal cord involvement and lactic acidosis (LBSL) syndrome ; spinocerebellar ataxia with encephalopathy (SCAE), also known as myoclonic epilepsy, myopathy and sensory ataxia (MEMSA) ; mitochondrial recessive ataxia (MIRAS) syndrome, which is part of the ataxia neuropathy spectrum ; autosomal dominant or autosomal recessive CPEO ; Mohr–Tranebjaerg syndrome (MTS) ; Leigh syndrome ; Wolfram syndrome ; or Wolf–Hirschhorn syndrome . Other phenotypes resulting in a MID with cognitive impairment are non‐syndromic and associated with various other supplementary manifestations (Table ) .…”

Section: Aetiologymentioning

confidence: 99%

Cognitive dysfunction in mitochondrial disorders

Finsterer

2012

Acta Neurologica Scandinavica

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Among the various central nervous system (CNS) manifestations of mitochondrial disorders (MIDs), cognitive impairment is increasingly recognized and diagnosed (mitochondrial cognitive dysfunction). Aim of the review was to summarize recent findings concerning the aetiology, pathogenesis, diagnosis and treatment of cognitive decline in MIDs. Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, myoclonus epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness. Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome. In addition to syndromic MIDs, a large number of non-syndromic MIDs due to mtDNA as well as nDNA mutations have been reported, which present with cognitive impairment as the sole or one among several other CNS manifestations of a MID. Delineation of mitochondrial cognitive impairment from other types of cognitive impairment is essential to guide the optimal management of these patients. Treatment of mitochondrial cognitive impairment is largely limited to symptomatic and supportive measures. Cognitive impairment may be a CNS manifestation of syndromic as well as non-syndromic MIDs. Correct diagnosis of mitochondrial cognitive impairment is a prerequisite for the optimal management of these patients.

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“…A homozygous frameshift mutation in this gene, c.472insC, has been found in patients from a single family, presenting with slowly progressive LS, caused by impaired MTCO1 protein synthesis (Weraarpachai et al 2009 ) . No other TACO1 mutations have been found to date, suggesting that integrity of this factor is needed for extra-uterine life (Seeger et al 2010 ) .…”

Section: Lrpprc (Mim 607544) and Taco1 (Mim 612958)mentioning

confidence: 99%

“…Five children of a consanguineous Turkish family were affected with slowly progressive LS, more severe in girls than in boys: all patients were alive at the time of publication and three were in their 20s. The clinical picture was characterized by small stature, mental retardation, dystonia, dysarthria, spasticity, optic atrophy, and brain MRI showed symmetrical lesions of the basal ganglia (Seeger et al 2010 ) .…”

Section: The Diseases In the Molecular Eramentioning

confidence: 99%

Mitochondrial Oxidative Phosphorylation

Kadenbach¹

2012

Advances in Experimental Medicine and Biology

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Clinical and neuropathological findings in patients with TACO1 mutations

Cited by 37 publications

References 8 publications

Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Cognitive dysfunction in mitochondrial disorders

Mitochondrial Oxidative Phosphorylation

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