keyword
https://read.qxmd.com/read/38360512/overarching-pathomechanisms-in-inherited-peripheral-neuropathies-spastic-paraplegias-and-cerebellar-ataxias
#21
REVIEW
Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets
International consortia collaborating on the genetics of rare diseases have significantly boosted our understanding of inherited neurological disorders. Historical clinical classification boundaries were drawn between disorders with seemingly different etiologies, such as inherited peripheral neuropathies (IPNs), spastic paraplegias, and cerebellar ataxias. These clinically defined borders are being challenged by the identification of mutations in genes displaying wide phenotypic spectra and by shared pathomechanistic themes, which are valuable indications for therapy development...
February 14, 2024: Trends in Neurosciences
https://read.qxmd.com/read/38342844/a-chinese-family-with-digenic-tbp-stub1-spinocerebellar-ataxia
#22
JOURNAL ARTICLE
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical manifestations of SCATBP/STUB1 include not only ataxia but also obvious cognitive and behavioral impairment. Here, we describe a Chinese family with SCATBP/STUB1 and performed a literature search for similar cases. We identified a Chinese family with SCATBP/STUB1 and compare our clinical findings with other cases described in the literature so far...
February 12, 2024: Cerebellum
https://read.qxmd.com/read/38334933/hereditary-spastic-paraparesis-type-46-spg46-new-gba2-variants-in-a-large-italian-case-series-and-review-of-the-literature
#23
REVIEW
Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D'Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to biallelic GBA2 mutations. About thirty families have been described worldwide, with different phenotypes like complicated HSP, recessive cerebellar ataxia or Marinesco-Sjögren Syndrome. Herein, we report five SPG46 patients harbouring five novel GBA2 mutations, the largest series described in Italy so far...
February 9, 2024: Neurogenetics
https://read.qxmd.com/read/38330475/genetic-myelopathies
#24
REVIEW
Kara Stavros
OBJECTIVE: This article provides an overview of genetic myelopathies, a diverse group of inherited, degenerative conditions that may be broadly categorized as motor neuron disorders, disorders of spinocerebellar degeneration, leukodystrophies, and hereditary spastic paraplegia. Clinical examples from each category are provided to illustrate the spectrum of genetic myelopathies and their distinguishing features that aid in differentiating genetic myelopathies from potentially treatable acquired causes of myelopathy...
February 1, 2024: Continuum: Lifelong Learning in Neurology
https://read.qxmd.com/read/38320719/investigating-the-therapeutic-effects-of-novel-compounds-targeting-inflammatory-il-1%C3%AE-and-il-6-signaling-pathways-in-spinocerebellar-ataxia-type-3
#25
JOURNAL ARTICLE
I-Cheng Chen, Wan-Ling Chen, Kuo-Hsuan Chang, Jun-Wei Lee, Te-Hsien Lin, Wenwei Lin, Chiung-Mei Chen, Guey-Jen Lee-Chen
At least seven dominantly inherited spinocerebellar ataxias (SCA) are caused by expansions of polyglutamine (polyQ)-encoding CAG repeat. The misfolded and aggregated polyQ-expanded proteins increase reactive oxygen species (ROS), cellular toxicity, and neuroinflammation in the disease pathogenesis. In this study, we evaluated the anti-inflammatory potentials of coumarin derivatives LM-021, LMDS-1, LMDS-2, and pharmacological chaperone tafamidis using mouse BV-2 microglia and SCA3 ataxin-3 (ATXN3)/Q75 -GFP SH-SY5Y cells...
February 4, 2024: European Journal of Pharmacology
https://read.qxmd.com/read/38316835/ndufs7-variant-in-dogs-with-leigh-syndrome-and-its-functional-validation-in-a-drosophila-melanogaster-model
#26
JOURNAL ARTICLE
Matthias Christen, Anne Gregor, Rodrigo Gutierrez-Quintana, Jos Bongers, Angie Rupp, Jacques Penderis, G Diane Shelton, Vidhya Jagannathan, Christiane Zweier, Tosso Leeb
Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed accumulation of mitochondria. Whole genome sequencing identified a missense variant in a gene associated with human Leigh syndrome, NDUFS7:c.535G > A or p...
February 5, 2024: Scientific Reports
https://read.qxmd.com/read/38277988/pcyt2-deficiency-in-saarlooswolfdogs-with-progressive-retinal-central-and-peripheral-neurodegeneration
#27
JOURNAL ARTICLE
Matthias Christen, Anna Oevermann, Stefan Rupp, Frédéric M Vaz, Eric J M Wever, Barbara K Braus, Vidhya Jagannathan, Alexandra Kehl, Marjo K Hytönen, Hannes Lohi, Tosso Leeb
We investigated a syndromic disease comprising blindness and neurodegeneration in 11 Saarlooswolfdogs. Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. Histopathology in one affected dog demonstrated cataract, retinal degeneration, central and peripheral axonal degeneration, and severe astroglial hypertrophy and hyperplasia in the central nervous system...
January 21, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38272714/omaveloxolone-a-groundbreaking-milestone-as-the-first-fda-approved-drug-for-friedreich-ataxia
#28
REVIEW
Federica Pilotto, Deepika M Chellapandi, Hélène Puccio
Friedreich ataxia (FA) is an inherited autosomal recessive neurodegenerative disease (NDD) characterized primarily by progressive sensory and spinocerebellar ataxia associated with hypertrophic cardiomyopathy. FA is due to an intronic GAA repeat expansion within the frataxin gene (FXN) leading to reduced levels of frataxin (FXN) which causes mitochondrial dysfunction, production of reactive oxygen species (ROS), and altered iron metabolism. To date there is no resolutive cure for FA; however, the FDA has recently approved omaveloxolone - a potent activator of nuclear factor erythroid 2-related factor 2 (NRF2) - as the first treatment for FA...
January 10, 2024: Trends in Molecular Medicine
https://read.qxmd.com/read/38262859/single-center-experience-of-congenital-disorders-of-glycosylation-syndrome-screening-in-tunisia-a-retrospective-study-over-a-15-year-period-2007-2021
#29
JOURNAL ARTICLE
Wiem Zidi, Sameh Hadj-Taieb, Ichraf Kraoua, Mongia Hachicha, Hassen Seboui, Kamel Monastiri, Saayda Ben Becher, Ilhem Turki, Haifa Sanhaji, Neji Tebib, Naziha Kaabachi, Moncef Feki, Monia Allal-Elasmi
BACKGROUND: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics. METHODS: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis. RESULTS: During the 15-year period, 23 patients were diagnosed with CDGS (19 patients with CDG-Ia, three patients with CDG-IIx, and one patient with CDG-X)...
January 22, 2024: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/38253783/diagnostic-outcome-of-pro-bono-neurogenetic-diagnostic-service-in-sri-lanka-a-wealth-creation
#30
JOURNAL ARTICLE
Lakmal Gonawala, Nalaka Wijekoon, Darshika Attanayake, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Ajantha Keshavaraj, Chandra Mohan, Harry W M Steinbusch, Eric P Hoffman, Ashwin Dalal, K Ranil D de Silva
The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro bono cost-effective national, island-wide, free-of-charge molecular diagnostic service, suggesting a model for other developing countries. The project provided 637 molecular diagnostic tests and reports free of charge to a nation with limited resources. We pioneered the implementation of mobile clinics and home visits, where the research team acted as barefoot doctors with the concept of the doctor and the researcher at the patient's doorstep...
January 23, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38235039/-irf2bpl-causes-mild-intellectual-disability-followed-by-late-onset-ataxia
#31
JOURNAL ARTICLE
Solveig Heide, Claire-Sophie Davoine, Paulina Cunha, Clarisse Scherer-Gagou, Boris Keren, Giovanni Stevanin, Perrine Charles, Delphine Heron, Alexis Brice, Alexandra Durr
BACKGROUND AND OBJECTIVES: Neurodevelopmental and neurodegenerative disorders have long been considered as different clinical and molecular entities, and only a few genes are known to be involved in both processes. The IRF2BPL (interferon regulatory factor 2 binding protein like) gene was implicated in a severe pediatric phenotype characterized by developmental and epileptic encephalopathy and early regression. In parallel, inherited IRF2BPL variants have been reported in cohorts of patients with late-onset progressive dystonic and ataxic syndrome with few information about the neurodevelopment of these patients...
December 2023: Neurology. Genetics
https://read.qxmd.com/read/38233770/expanding-the-genotype-phenotype-spectrum-in-scn8a-related-disorders
#32
JOURNAL ARTICLE
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A Dean, Samuel J Goodchild, Janette Mezeyova, Noah Gregory Shuart, J P Johnson, James Lee, Aspasia Michoulas, Linda L Huh, Linlea Armstrong, Mary B Connolly, Michelle K Demos
BACKGROUND: SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia. METHODS: In this study, we describe clinical and genetic results on eight individuals from six families with SCN8A pathogenic variants identified via exome sequencing...
January 17, 2024: BMC Neurology
https://read.qxmd.com/read/38227598/longitudinal-mri-and-1h-mrs-study-of-sca7-mouse-forebrain-reveals-progressive-multiregional-atrophy-and-early-brain-metabolite-changes-indicating-early-neuronal-and-glial-dysfunction
#33
JOURNAL ARTICLE
Jean-Baptiste Pérot, Anna Niewiadomska-Cimicka, Emmanuel Brouillet, Yvon Trottier, Julien Flament
SpinoCerebellar Ataxia type 7 (SCA7) is an inherited disorder caused by CAG triplet repeats encoding polyglutamine expansion in the ATXN7 protein, which is part of the transcriptional coactivator complex SAGA. The mutation primarily causes neurodegeneration in the cerebellum and retina, as well as several forebrain structures. The SCA7140Q/5Q knock-in mouse model recapitulates key disease features, including loss of vision and motor performance. To characterize the temporal progression of brain degeneration of this model, we performed a longitudinal study spanning from early to late symptomatic stages using high-resolution magnetic resonance imaging (MRI) and in vivo 1H-magnetic resonance spectroscopy (1H-MRS)...
2024: PloS One
https://read.qxmd.com/read/38223361/developing-of-biotin-thiamine-responsive-basal-ganglia-disease-after-accidental-ingestion-of-ethyl-alcohol-a-case-report
#34
Abdullah Nasser Aldosari, Aida Arisha, Ahmed Ibrahim, Mohamed Gongi
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, inherited neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that are often triggered by infections. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine. Herein, we report a 2 and a half-year-old Saudi girl presented with an acute onset of ataxia, slurred speech, and dysphagia, which was preceded by a history of accidental ingestion of around 20 mL of ethyl alcohol that is used in formulating perfumes 1 day earlier...
December 2023: Journal of Epilepsy Research
https://read.qxmd.com/read/38197134/adaptive-long-read-sequencing-reveals-ggc-repeat-expansion-in-zfhx3-associated-with-spinocerebellar-ataxia-type-4
#35
JOURNAL ARTICLE
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca, Eleanor Self, Pilar Alvarez Jerez, Annarita Scardamaglia, David Pellerin, Kylie Montgomery, Jasmaine Lee, Delia Gagliardi, Huihui Luo, John Hardy, James Polke, Andrew B Singleton, Cornelis Blauwendraat, Katherine D Mathews, Arianna Tucci, Ying-Hui Fu, Henry Houlden, Mina Ryten, Louis J Ptáček
BACKGROUND: Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with invariable sensory neuropathy originally described in a family with Swedish ancestry residing in Utah more than 25 years ago. Despite tight linkage to the 16q22 region, the molecular diagnosis has since remained elusive. OBJECTIVES: Inspired by pathogenic structural variation implicated in other 16q-ataxias with linkage to the same locus, we revisited the index SCA4 cases from the Utah family using novel technologies to investigate structural variation within the candidate region...
January 10, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38171570/-advance-of-research-on-hereditary-spastic-paraplegia-type-4
#36
JOURNAL ARTICLE
Jie Wang, Yaxian Liu, Lichun Zhang, Lirong Zhao, Xiaoxia Liu, Xiaohua Wang
Spastic paraplegia type 4 (SPG4) is the most common type of autosomally inherited spastic paraplegia. Its main clinical features include typical simple hereditary spastic paraplegia, with neurological impairments limited to lower limb spasticity, hypertonic bladder dysfunction, and mild weakening of lower limb vibration sensation, without accompanying features such as nerve atrophy, ataxia, cognitive impairment, seizures, and muscle tone disorders. SPAST is the main pathogenic gene underlying SPG4, and various pathogenic SPAST variants have been discovered...
January 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38171482/prenatal-testing-for-variants-in-genes-associated-with-hereditary-cancer-risk-laboratory-experience-and-considerations
#37
JOURNAL ARTICLE
Lynne S Rosenblum, Stephanie M Auger, Hui Zhu, Zhaoqing Zhou, Winnie Xin, Jennifer Reiner, Zena Wolf, Natalia T Leach
Prenatal molecular genetic testing for familial variants that cause inherited disorders has been performed for decades and is accepted as standard of care. However, the spectrum of genes considered for prenatal testing is expanding due to genetic testing for hereditary cancer risk (HCR) and inclusion of conditions with associated cancer risk in carrier screening panels. A few of these disorders, such as ataxia telangiectasia and Bloom syndrome, include increased cancer risk as part of the phenotype, already meet professional guidelines for prenatal testing, and may be associated with increased cancer risk in heterozygous carriers...
January 1, 2024: Journal of Molecular Diagnostics: JMD
https://read.qxmd.com/read/38168171/aaggg-repeat-expansions-trigger-rfc1-independent-synaptic-dysregulation-in-human-canvas-neurons
#38
Connor J Maltby, Amy Krans, Samantha J Grudzien, Yomira Palacios, Jessica Muiños, Andrea Suárez, Melissa Asher, Vikram Khurana, Sami J Barmada, Anke A Dijkstra, Peter K Todd
UNLABELLED: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late onset, recessively inherited neurodegenerative disorder caused by biallelic, non-reference pentameric AAGGG(CCCTT) repeat expansions within the second intron of replication factor complex subunit 1 ( RFC1 ). To investigate how these repeats cause disease, we generated CANVAS patient induced pluripotent stem cell (iPSC) derived neurons (iNeurons) and utilized calcium imaging and transcriptomic analysis to define repeat-elicited gain-of-function and loss-of-function contributions to neuronal toxicity...
December 14, 2023: bioRxiv
https://read.qxmd.com/read/38112342/quantitative-brain-morphometry-identifies-cerebellar-cortical-and-subcortical-gray-and-white-matter-atrophy-in-late-onset-tay-sachs-disease
#39
JOURNAL ARTICLE
Jitka Májovská, Igor Nestrašil, Alia Ahmed, Monica T Bondy, Jiří Klempíř, Helena Jahnová, Susanne A Schneider, Dana Horáková, Jan Krásenský, Pavel Ješina, Manuela Vaneckova, David R Nascene, Chester B Whitley, Jeanine R Jarnes, Martin Magner, Petr Dušek
Cerebellar atrophy is a characteristic sign of late-onset Tay-Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole-brain analysis and quantitatively characterize morphometric changes in LOTS patients. Fourteen patients (8 M/6F) with LOTS from three centers were included in this retrospective study. For morphometric brain analyses, we used deformation-based morphometry, voxel-based morphometry, surface-based morphometry, and spatially unbiased cerebellar atlas template...
December 19, 2023: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38109457/anesthetic-chalenges-and-managment-in-patient-with-ataxia-telangiectasia
#40
JOURNAL ARTICLE
Marija Jovanovski-Srceva, Goran Kondov, Andrijan Kartalov, Antonio Georgiev, Igor Kuzmanovski, Bujar Osmani, Mishel Andov, Aleksandra Gavrilovska-Brzanov, Nexhati Jakupi, Marija Stevic, Sinisa Stojanoski
Louis-Bar Syndrome is a synonym for a very rare complex neurodegenerative disorder ataxia-telangiectasia (A-T). This is an autosomal recessive inherited disease that encompasses abnormalities in the cerebellum, multisystem degeneration, immunodeficiency, increased risk for malignancy and consecutive respiratory insufficiency. Most of the patients are radiosensitive and any exposing to ionization may lead to progression of the disease. Potential risks from anesthesia, mechanical ventilation, and postoperative complications in these patients have been insufficiently discussed in the literature...
December 1, 2023: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
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