Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

Murakami, Tatsufumi; Mita, Shuji; Tokunaga, Makoto; Maeda, Hiroko; Ueyama, Hidetsugu; Kumamoto, Toshihide; Uchino, Makoto; Ando, Masayuki

doi:10.1016/0022-510x(96)00165-7

Cited by 21 publications

(24 citation statements)

References 12 publications

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“…However, when Series from pediatric epilepsy surgery centers have pointed out that TLE represents a larger proportion of intractable cases and that malformations of cortical development and tumors in the temporal lobe are much more common than mesial temporal lobe epilepsy in children under 12 years of age (2,18). The low relative frequency of TLE in children should explain the relatively small number of patients in the present series and in those reported elsewhere (2,(18)(19)(20).…”

Section: Discussionmentioning

confidence: 49%

Relative frequency, clinical, neuroimaging, and postsurgical features of pediatric temporal lobe epilepsy

Sales

Velasco

Funayama

et al. 2006

Braz J Med Biol Res

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We describe the relative frequency, clinical features, neuroimaging and pathological results, and outcome after pharmacological or surgical intervention for a series of pediatric patients with temporal lobe epilepsy (TLE) from an epilepsy center in Brazil. The medical records of children younger than 12 years with features strongly suggestive of TLE were reviewed from January 1999 to June 1999. Selected children were evaluated regarding clinical, EEG, and magnetic resonance imaging (MRI) investigation and divided into three groups according to MRI: group 1 (G1, N = 9), patients with hippocampal atrophy; group 2 (G2, N = 10), patients with normal MRI, and group 3 (G3, N = 12), patients with other specific temporal lesions. A review of 1732 records of children with epilepsy revealed 31 cases with TLE (relative frequency of 1.79%). However, when the investigation was narrowed to cases with intractable seizures that needed video-EEG monitoring (N = 68) or epilepsy surgery (N = 32), the relative frequency of TLE increased to 19.11 (13/68) and 31.25% (10/32), respectively. At the beginning of the study, 25 of 31 patients had a high seizure frequency (80.6%), which declined to 11 of 31 (35.5%) at the conclusion of the study, as a consequence of pharmacological and/or surgical therapy. This improvement in seizure control was significant in G1 (P < 0.05) and G3 (P < 0.01) mainly due to good postsurgical outcome, and was not significant in G2 (P > 0.1, McNemar's test). These results indicate that the relative frequency of TLE in children was low, but increased considerably among cases with pharmacoresistant seizures. Patients with specific lesions were likely to undergo surgery, with good postoperative outcomes. Correspondence

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Section: Discussionmentioning

confidence: 49%

Relative frequency, clinical, neuroimaging, and postsurgical features of pediatric temporal lobe epilepsy

Sales

Velasco

Funayama

et al. 2006

Braz J Med Biol Res

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“…Interestingly, the mitochondrial DNAhaplogroup background seems to influence the clinical expression of LHON mutations [65]. In most cases, LHON occurs isolated to the optic nerve, with only a small subgroup of patients displaying a plus-phenotype with additional neurological symptoms such as cerebellar ataxia or encephalomyopathy [58,88,95]. Intriguingly, depending on the underlying disease causing mtDNA mutation, some patients experience partial vision recovery even several years after disease onset [2].…”

Section: Oxidative Stressmentioning

confidence: 99%

Neurodegeneration as a consequence of failed mitochondrial maintenance

2011

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Maintaining the functional integrity of mitochondria is pivotal for cellular survival. It appears that neuronal homeostasis depends on high-fidelity mitochondria, in particular. Consequently, mitochondrial dysfunction is a fundamental problem associated with a significant number of neurological diseases, including Parkinson's disease (PD), Huntington's disease (HD), Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and various peripheral neuropathies, as well as the normal aging process. To ensure optimal mitochondrial function, diverse, evolutionarily conserved mitochondrial quality control mechanisms are in place, including the scavenging of toxic reactive oxygen species (ROS) and degradation of damaged mitochondrial proteins, but also turnover of whole organelles. In this review we will discuss various mitochondria-associated conditions, focusing on the role of protein turnover in mitochondrial maintenance with special emphasis on neurodegenerative disorders.

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“…Only in single patients ataxia may be a supplementary feature in addition to optic atrophy (Table 3) 18,19 . In such patients cMRI may reveal cerebellar atrophy 19 .…”

Section: Leber's Hereditary Optic Neuropathy (Lhon)mentioning

confidence: 99%

“…Only in single patients ataxia may be a supplementary feature in addition to optic atrophy (Table 3) 18,19 . In such patients cMRI may reveal cerebellar atrophy 19 . LHON is due to homoplasmic mtDNA mutations affecting genes, which encode for subunits of RC complex I, III, IV, or V. Most frequently subunits of RC complex I are mutated in LHON.…”

Section: Leber's Hereditary Optic Neuropathy (Lhon)mentioning

confidence: 99%

Mitochondrial Ataxias

Finsterer

2009

Can. j. neurol. sci.

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Mitochondrial disorders (MIDs) are an increasingly recognized condition. The second most frequently affected organ in MIDs is the central nervous system. One of the most prevalent clinical CNS manifestations of MIDs is ataxia. Ataxia may be even the dominant manifestation of a MID. This is why certain MIDs should be included in the classification of heredoataxias or at least considered as differentials of classical heredoataxias. MIDs due to mutations of the mitochondrial DNA, which develop ataxia include the MERRF, NARP, MILS, or KSS syndrome. More rarely, ataxia may be a feature of MELAS, LHON, PS, MIDD, or MSL. MIDs due to mutations of the nuclear DNA, which develop ataxia include LS, SANDO, SCAE, AHS, XSLA/A, IOSCA, MIRAS, MEMSA, or LBSL syndrome. More rarely ataxia can be found in AD-CPEO, AR-CPEO, MNGIE, DIDMOAD, CoQ-deficiency, ADOAD, DCMA, or PDC-deficiency. MIDs most frequently associated with ataxia are the non-syndromic MIDs. Syndromic and non-syndromic MIDs with ataxia should be delineated from classical heredoataxias to initiate appropriate symptomatic or supportive treatment.

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Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

Cited by 21 publications

References 12 publications

Relative frequency, clinical, neuroimaging, and postsurgical features of pediatric temporal lobe epilepsy

Relative frequency, clinical, neuroimaging, and postsurgical features of pediatric temporal lobe epilepsy

Neurodegeneration as a consequence of failed mitochondrial maintenance

Mitochondrial Ataxias

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