Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations

AbstractThis is a letter to the Editor concerning the recently published article by Zerem et al. The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met inOPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment. This interesting case could be more meaningful by providing more information about the treatment of the SLE/stroke-like lesion (SLL), about the morphological characteristics of the SLL on MRI, and the results of prospective investigations for subclinical involvement of organs so far clinically unaffected.
Source: Metabolic Brain Disease - Category: Neurology Source Type: research

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Abstract The G coupled protein receptor CC chemokine receptor type 5 (CCR5) has the unusual characteristic in humans of being a developmentally non-essential gene that participates in several pathological processes including infection with HIV (Dean et al., 1996; Gupta et al., 2019; Samson et al., 1996), progression of stroke (Joy et al., 2019), osteoporosis (Xie et al., 2019) and the metastasis of cancer (Jiao et al., 2018; Velasco-Velazquez et al., 2012, 2014) (Reviewed in: Jiao, Nawab, et al., 2019; Jiao, Wang, &Pestell, 2019). The importance of CCR5 in HIV led to recent genetic engineering of humans to rec...
Source: Advances in Cancer Research - Category: Cancer & Oncology Authors: Tags: Adv Cancer Res Source Type: research
Publication date: Available online 25 February 2020Source: NeuropsychologiaAuthor(s): Shawniqua Williams Roberson, Preya Shah, Vitória Piai, Heather Gatens, Abba M. Krieger, Timothy H. Lucas, Brian Litt
Source: Neuropsychologia - Category: Neurology Source Type: research
Publication date: Available online 25 February 2020Source: Multiple Sclerosis and Related DisordersAuthor(s): Ayelet Armon-Omer, Hadar Neuman, Adi Sharabi-Nov, Radi Shahien
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Publication date: April 2020Source: Epilepsy &Behavior, Volume 105Author(s): Mariana de Souza Aranha Garcia-Gomes, Dennis Albert Zanatto, Orfa Yineth Galvis-Alonso, Jorge Mejia, Ana Tada Fonseca Brasil Antiorio, Pedro Kenzo Yamamoto, Márcia Carolina Millán Olivato, Thaísa Meira Sandini, Jorge Camilo Flório, Ivo Lebrun, Silvia Maria Gomes Massironi, Sandra Regina Alexandre-Ribeiro, Maria Martha Bernardi, Susan Ienne, Tiago Antonio de Souza, Maria Lúcia Zaidan Dagli, Claudia Madalena Cabrera Mori
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Authors: Si Y, Xiao X, Xia C, Guo J, Hao Q, Mo Q, Niu Y, Sun H Abstract OBJECTIVE: To assess whether a practical intervention based upon a smartphone application (app) would improve self-management and seizure control in adults with epilepsy. DESIGN, SETTING: Randomised, controlled trial in western China, December 2017 to August 2018. PARTICIPANTS: 380 eligible people with epilepsy were recruited; 327 completed the 6-month follow-up (176 in the app group, 151 in the control group). MAIN OUTCOME MEASURES: Self-management of epilepsy (measured with the validated Chinese Epilepsy Self-Management Scale, C-E...
Source: Medical Journal of Australia - Category: General Medicine Tags: Med J Aust Source Type: research
Publication date: Available online 24 February 2020Source: Journal of the Formosan Medical AssociationAuthor(s): Shin-Yi Lin, Sung-Chun Tang, Li-Kai Tsai, Shin-Joe Yeh, Chih-Fen Huang, Jiann-Shing Jeng
Source: Journal of the Formosan Medical Association - Category: General Medicine Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T>C mutation has bee...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Authors: Tranchant C, Anheim M Abstract Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, i...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 R...
Source: Innovations in Clinical Neuroscience - Category: Neuroscience Authors: Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research
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