The Core Clinical Features of MTATP6-Related Mitochondrial Disease (S30.005)

Conclusions: Only a minority of patients with MTATP6 mutations present with the classical LS and NARP syndromes. The vast majority of patients have an ataxia, peripheral neuropathy, and cognitive dysfunction and these should be considered core features in patients with genetic defects in MTATP6.Disclosure: Dr. Martikainen has nothing to disclose. Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Horvath has nothing to disclose. Professor Patrick F. Chinnery has received research support from Santhera Pharmaceuticals. Dr. Blakely has nothing to disclose. Dr. Alston has nothing to disclose. Dr. Taylor has nothing to disclose. Dr. McFarland has nothing to disclose. Dr. Turnbull has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxias and Other Hyperkinetic Movement Disorders Source Type: research

Related Links:

This study provides strong evidence that following a healthy lifestyle can substantially extend the years a person lives disease-free." Commentary on Recent Evidence for Cognitive Decline to Precede Amyloid Aggregation in Alzheimer's Disease https://www.fightaging.org/archives/2020/01/commentary-on-recent-evidence-for-cognitive-decline-to-precede-amyloid-aggregation-in-alzheimers-disease/ I can't say that I think the data presented in the research noted here merits quite the degree of the attention that it has been given in the popular science press. It is interesting, but not compelling if its role...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Authors: Palma-Carvajal F, Salazar-Villegas Á, Alé-Chilet A, Bernal-Morales C, Dotti-Boada M, Figueroa-Vercellino JP, Alforja S PMID: 31948687 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Contributors : Simon Dankel ; Regine Asen ; Laurence Dyer ; Divya PriyankaSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensObesity, and visceral adiposity in particular, increases the risk of common metabolic diseases, including type 2 diabetes, cardiovascular disease, and several forms of cancer. However, the molecular mechanisms responsible for regional fat storage remain poorly characterized, preventing therapeutic innovation. We here applied a systematic genome-wide screen and translational approach, and discovered a novel role for the adipocyte-expressed neutral amino acid transpo...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Simon Dankel ; Regine AsenSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioObesity, and visceral adiposity in particular, increases the risk of common metabolic diseases, including type 2 diabetes, cardiovascular disease, and several forms of cancer. However, the molecular mechanisms responsible for regional fat storage remain poorly characterized, preventing therapeutic innovation. We here applied a systematic genome-wide screen and translational approach, and discovered a novel role for the adipocyte-expressed neutral amino acid transporter SLC7A10/ASC-1 in the regulati...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research
Publication date: Available online 17 January 2020Source: Neuroscience LettersAuthor(s): Lauren M. Styczynski, Katie A. Schappacher, Mark L. BacceiAbstractEarly life administration of vincristine (VNC), commonly used to treat pediatric leukemia, evokes peripheral neuropathy and mechanical pain hypersensitivity in rats that lasts into adolescence. However, the degree to which VNC-evoked neuropathic pain persists throughout adulthood has yet to be examined. It also remains unclear if pediatric VNC exposure can ‘prime’ developing nociceptive pathways and thereby exacerbate chronic pain following subsequent trauma ...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Publication date: Available online 17 January 2020Source: Journal of Clinical NeuroscienceAuthor(s): Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, Thanin Wechapinan, Chalurmpon Srichomthomg, Chupong Ittiwut, Martin Krenn, Fritz Zimprich, Ivan Milenkovic, Angela Abicht, Saskia Biskup, Timo Roser, Vorasuk Shotelersuk, Moritz Tacke, Marianne Kuersten, Matias Wagner, Ingo Borggraefe, Kanya Suphapeetiporn, Celina von StülpnagelAbstractATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Publication date: Available online 17 January 2020Source: PhytomedicineAuthor(s): Rui Guo, Ningning Liu, Hao Liu, Junhua Zhang, Han Zhang, Yingchao Wang, Mirko Baruscotti, Lu Zhao, Yi WangAbstractBackground: Cardiac hypertrophy is a prominent feature of heart remodeling, which may eventually lead to heart failure. Tongmaiyangxin (TMYX) pills is a clinically used botanical drug for treating multiple cardiovascular diseases including chronic heart failure. The aim of the current study was to identify the bioactive compounds in Tongmaiyangxin pills that attenuate cardiomyocytes hypertrophy, and to investigate the underlying m...
Source: Phytomedicine - Category: Drugs & Pharmacology Source Type: research
Diabetic peripheral neuropathy (DPN) is a common chronic complication of diabetes mellitus. It leads to distressing and expensive clinical sequelae such as foot ulceration, leg amputation, and neuropathic pain (painful-DPN). Unfortunately, DPN is often diagnosed late when irreversible nerve injury has occurred and its first presentation may be with a diabetic foot ulcer. Several novel diagnostic techniques are available which may supplement clinical assessment and aid the early detection of DPN. Moreover, treatments for DPN and painful-DPN are limited. Only tight glucose control in type 1 diabetes has robust evidence in re...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including spinocerebellar ataxia (SCA), early-onset Parkinson's disease (EOPD), and amyotrophic lateral sclerosis (ALS) we conducted a mutation analysis of CAPN1 in a cohort of Chinese patients with SPG, SCA, EOPD, and ALS.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
This study demonstrated that while diabetic peripheral neuropathy deteriorates gait function, including increasing gait unsteadiness and limp, the diabetic foot ulcer and offloading combination magnifies the deterioration beyond diabetic peripheral neuropathy. These findings promote caution of the current standards of care for treating diabetic foot ulcers with offloading footwear. However, it is possible that a contralateral shoe lift may remedy deteriorated gait function and improve quality of life for unilateral offloading users.
Source: Clinical Biomechanics - Category: Orthopaedics Authors: Source Type: research
More News: Ataxia | Brain | Genetics | Leigh Syndrome | Mitochondrial Disease | Neurology | Peripheral Neuropathy | Research | Retinitis Pigmentosa | Study