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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).
Kearns–Sayre syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
In 1995, Kearns and Sayre [1] reported a syndrome of retinitis pigmentosa, external ophthalmoplegia, and complete heart block. It has for some time been recognized as an encephalomyopathy with variable neurologic manifestations, including cerebellar ataxia, muscle weakness, sensorineural deafness, and mental deterioration [2]. There may be elevation of the protein in CSF to values over 100 mg/dL. Muscle biopsy reveals ragged red fibers [3]. Lestienne and Ponsot [4], Holt and colleagues [5], and Zeviani et al. [6], in 1988, reported deletions in the DNA of mitochondria in biopsied muscle. The common deletion approximates 5 kb. The disease is virtually always the result of spontaneous new mutation. Cerebral deficiency of folate has been reported in this disease, and a favorable response to treatment with folic acid was observed [7].
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).
COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree
Published in Renal Failure, 2021
Min Li, Zhihui Yue, Hongrong Lin, Haiyan Wang, Huamu Chen, Liangzhong Sun
The clinical manifestations of CoQ10 deficiency caused by different biosynthetic enzyme defects and the affected organs are not consistent, and different clinical phenotypes can be caused by the same synthetic enzyme deficiency [4]. Three groups of CoQ10 synthetic enzyme deficiencies were proposed by Acosta et al. [3]. The first group includes PDSS1, PDSS2, COQ2, COQ6, and ADCK4. Glomerular involvement manifests as SRNS, is a clinical feature that maybe present in the defects of these genes, together with or without neurological or systemic disorders. The second group encompasses COQ4, COQ7, and COQ9. The defects of these genes mainly manifest as encephalomyopathy. Glomerular impairment has never been displayed, although tubulopathy may be present. The third is the only pathogenic gene of ADCK3. Central nervous system (CNS) involvement is essential. Extra-CNS impairment has not been observed [5].
Fundus autofluorescence: the key in the diagnosis of maternally inherited diabetes and deafness
Published in Clinical and Experimental Optometry, 2018
Olivia Esteban, Javier Mateo, Carlos Peiro, Maria ángeles Del buey, Francisco J Ascaso
Differential diagnosis was made with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like (MELAS), Stargardt disease and pattern dystrophies. In the case of MELAS, whether the same point mutation in the mtDNA is present, there are some neurological clinical signs like encephalopathy, migrainous headaches, stroke‐like episodes or cognitive decline which were not present in our case and neither diabetes mellitus nor deafness is frequent in MELAS. In Stargardt disease, visual loss and macular atrophy are usually the only signs. In macular pattern dystrophies, we can find similar signs in the macular area but the onset age is much higher than in MIDD, early diabetes and deafness are not present and this characteristic autofluorescent pattern is not present.
Molecular diagnosis of coenzyme Q10 deficiency: an update
Published in Expert Review of Molecular Diagnostics, 2018
Delia Yubero, Raquel Montero, Carlos Santos-Ocaña, Leonardo Salviati, Placido Navas, Rafael Artuch
A huge clinical variability is observed in CoQ deficiency syndromes, including the age of onset, the severity of the phenotype, the degree of CoQ reduction in tissues, or the clinical response to CoQ supplementation [24]. A mitochondrial disease with cerebellar ataxia [25] is one of the most common forms of CoQ deficiency, followed by the renal form, consisting of an early onset steroid-resistant nephrotic syndrome [17] occasionally associated with deafness [26]. The other phenotypes include encephalomyopathy, isolated myopathy, and multisystemic infantile forms. From the time of the first established molecular cause of CoQ deficiency [27], the progression in the molecular diagnosis has increased the phenotypical spectrum of the disease. In most cases, the pathophysiological causes and consequences of the CoQ defect have remained elusive [28], at least until a definite genetic diagnosis has been established. To determinate whether a patient has primary or secondary CoQ deficiency is critical for prognosis of the condition and for appropriate counseling, but a substantial percentage of patients with CoQ deficiency still lack genetic diagnosis [29]. To our knowledge, several diseases can present a secondary CoQ deficiency [30,31]. Thus, classification of patients into primary or secondary is only possible after genetic tests are performed [28,32]. Complete updated clinical information on primary CoQ deficiency has recently been published [33], and Tables 1 and 2 represent the diverse entities associated to secondary CoQ deficiency, classified according to the biological sample in which the deficiency has been shown.