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Spinal Cord Disease
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Metabolic disorder: SCD of the spinal cord.Mitochondrial encephalomyopathy.Abetalipoproteinemia (Bassen–Kornzweig disease).
Clinical Manifestation of Mitochondrial Disorders in Childhood
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
The disease onset is typical for the second or third decade of life (Altmann et al., 2016). The course of MERRF is usually slowly progressive. The major clinical manifestations of this common mitochondrial encephalomyopathy are myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibres in muscles. Other presentation may include hearing loss, peripheral neuropathy, dementia, short stature, exercise intolerance, multiple lipomas in a cervical distribution, and optic atrophy (Mancuso et al., 2013; Finsterer et al., 2018). Ataxia and central nervous system involvement may dominate the phenotype in adults; on the other hand, it may manifest only half of the patients of older age. However, children and adolescents may initially manifest with epilepsy and the disease progression may be rapid with a fatal outcome (Catteruccia et al., 2015).
DTI of Developmental and Pediatric Disorders
Published in Andrei I. Holodny, Functional Neuroimaging, 2019
Michael J. J. Kim, James M. Provenzale
To further characterize these white matter abnormalities, DTI was used to evaluate a five-month-old male with mitochondrial encephalomyopathy. In this patient, FA maps revealed decreased anisotropy in the temporoparietal white matter. This finding supports the hypothesized role of oligodendrocytes and the potential diagnostic utility of DTI in mitochondrial encephalomyopathy.
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Abraham J. Paredes-Fuentes, Clara Oliva, Roser Urreizti, Delia Yubero, Rafael Artuch
These have been the cornerstone of the investigations of MD patients over decades. Typical images and features, such as the presence of ragged-red fibers or histochemical immunoreactivity patterns, were used to classify a disease as an MD [64]. Such findings were scored highly in earlier diagnostic criteria for MDs [65], but they are not included in the revised criteria (Table 2) [16] and are no longer used as a first-line diagnostic tool. In any case, some of these findings strongly suggest the involvement of a subset of genes and can point to the presence of heteroplasmy (a typical feature of MDs of mtDNA genetic origin). Furthermore, in pediatric-age patients, some MD patients typically present with normal histological findings [66]. Figure 4 shows typical histopathological features of a patient with mtDNA mutations leading to an MD (MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome) and showing the heteroplasmy phenomenon.
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
Published in Ophthalmic Genetics, 2022
Matthew W. Russell, Justin C. Muste, Kanika Seth, Madhukar Kumar, Collin A. Rich, Rishi P. Singh, Elias I. Traboulsi
This observational study was conducted following IRB approval from Cleveland Clinic Institutional Review Board. Study-related procedures were performed in accordance with good clinical practice (International Conference on Harmonization of Technical Requirements of Pharmaceuticals for Human Use E6), applicable FDA regulations, the Health Insurance Portability and Accountability Act, and the Declaration of Helsinki. Participants were patients aged 12 years or older examined at the Cleveland Clinic Cole Eye Institute from 1 January 2021 to 21 December 2021. Inclusion criteria were as follows: dilated fundus examination (DFE), diagnosis of a retinal dystrophy by board-certified ophthalmologist and clinical geneticist, and molecular genetic testing that supports the clinical diagnosis. Exclusion criteria were as follows: ocular hypertension including glaucoma, concomitant macular abnormalities or retinopathy not resulting from the IRD, history of uveitis, hydroxychloroquine use, history of retinal detachment, vitreoretinal surgery in the previous three months, and fluorescein imaging on the day of examination. In cases of bilateral involvement, each eye was considered separately. Control patients had no retinopathy on clinical exam and lacked exclusion criteria. We included patients in the five following categories: Rod-Cone dystrophy (Retinitis pigmentosa, Usher syndrome), Stargardt disease, Bardet-Biedl syndrome (BBS), Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and Mitochondrial ATP synthase subunit 6 mutation (MT-ATP6).
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation
Published in Ophthalmic Genetics, 2021
Noriko Oishi, Daiki Kubota, Kenji Nakamoto, Yukito Takeda, Mika Hayashi, Kiyoko Gocho, Kunihiko Yamaki, Tsutomu Igarashi, Hiroshi Takahashi, Shuhei Kameya
Maternally inherited diabetes and deafness (MIDD, OMIM; #520000) disorder and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS, OMIM; #540000) disorder are both caused by a maternally inherited m.3243A>G mutation in the mitochondrially encoded leucine transfer RNA (8–10). Mutations for MIDD account for 0.5–3% of diabetes mellitus (DM), and patients with MIDD are characterized by decreased insulin secretion and sensorineural hearing loss (10–12). In contrast, MELAS is a more severe syndrome that is characterized by stroke-like episodes, encephalopathy, myopathy, and lactic acidosis of the blood and/or cerebral spinal fluid (8,13,14). Both syndromes are associated with a broad spectrum of other symptoms and signs including cardiomyopathy, renal disease, short stature, and low body mass index (BMI) (11–14). It is not clear why some patients develop MIDD and others MELAS, but it has been suggested that the degree of heteroplasmy, the presence of a mixture of mutant and normal mtDNA in a cell may play a role (14–16). Although the relationship between the heteroplasmy level and clinical phenotype is not straightforward, it has been hypothesized that a high mtDNA heteroplasmy exceeding a critical threshold, typically >85%, causes the MELAS syndrome whereas a low mtDNA heteroplasmy, typically <45%, causes the MIDD syndrome (4,8,9,17–20).