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JOURNAL ARTICLE
Gabrielle N Turski, Christopher A Turski, Marcus Grobe-Einsler, Xenia Kobeleva, Jennifer S Turski, Frank G Holz, Robert P Finger, Thomas Klockgether
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterized by progressive degeneration of distal axons in the long corticospinal tracts. Loss of retinal cells and microvascular networks has neither been suspected nor investigated. We concurrently examined the retinal microvasculature and retinal layer morphology in patients with HSP to assess whether retinal features may portray disease and its progression. METHODS: Fifteen patients with HSP and 30 healthy controls were included in this cross-sectional case-control study...
January 6, 2024: Restorative Neurology and Neuroscience
#22
JOURNAL ARTICLE
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andrea Cortese
RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset...
January 9, 2024: Brain
#23
Helena F Pernice, Luke F O'Donnell, Alexander M Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
AIM: X-linked variants in FLNA are associated with the Ehlers-Danlos-Syndrome (EDS)-variant form of periventricular heterotopia, and autosomal dominant variants in UCHL1 are associated with a late-onset spastic ataxia, peripheral neuropathy, and optic atrophy. Here we present a rare case involving both a novel heterozygous whole gene deletion of UCHL1 and a heterozygous frameshift variant in the FLNA gene resulting in a complex phenotype. METHODS: A 67-year-old female with a confirmed pathogenic variant in the FLNA gene, resulting in an enlarged aorta and joint pains, presented with a 4-year history of severe sensory ataxia, upper motor neuron signs, eye movement abnormalities, and severe sensory loss...
December 22, 2023: Journal of the Peripheral Nervous System: JPNS
#24
JOURNAL ARTICLE
Kathleen Louis-Gray, Sangeeta Khanna, Sandra Camelo-Piragua, Aristides A Capizzano, Jonathan D Trobe, Patricia L Robertson, Rod Foroozan, Carrie A Mohila
A 12-year-old boy developed acute headache and vomiting. MRI brain showed a partially cystic suprasellar mass. He underwent cyst fenestration, but the cyst regrew, so he underwent transcranial subtotal resection of the mass. The pathologic diagnosis was adamantinomatous craniopharyngioma. Residual tumor was treated with proton beam radiation therapy, and panhypopituitarism was treated with hormone replacement therapy, including growth hormone. Serial brain MRI scans over several years showed no evidence of tumor recurrence...
December 14, 2023: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
#25
JOURNAL ARTICLE
Flávio Moura Rezende Filho, Neringa Jurkute, João Brainer Clares de Andrade, Bruna Ferraço Marianelli, Fabrício Diniz de Lima, Marcondes Cavalcante França, Juliana Maria Ferraz Sallum, Patrick Yu-Wai-Man, Orlando G P Barsottini, José Luiz Pedroso
BACKGROUND: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes. OBJECTIVE: The aim was to investigate optic disc and retinal architecture in SCA2. METHODS: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD-OCT)...
November 30, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
#26
REVIEW
Jose Luiz Pedroso, Thiago Cardoso Vale, Julian Letícia de Freitas, Filipe Miranda Milagres Araújo, Alex Tiburtino Meira, Pedro Braga Neto, Marcondes C França, Vitor Tumas, Hélio A G Teive, Orlando G P Barsottini
BACKGROUND: Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. OBJECTIVE: To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases...
November 2023: Arquivos de Neuro-psiquiatria
#27
JOURNAL ARTICLE
Anna Camós-Carreras, Marc Figueras-Roca, Marina Dotti-Boada, Rafel Alcubierre, Ricardo Pedro Casaroli-Marano, Esteban Muñoz, Bernardo Sánchez-Dalmau
Spectral domain optical coherence tomography (SD-OCT) allows noninvasive measurements of retinal neuron layers. Here, we evaluate the relationship between clinical features and anatomical SD-OCT measurements in patients with spinocerebellar ataxia type 3 (SCA3) and how they change with time. A retrospective review was conducted on SCA3 patients. Clinical variables such as disease duration, number of CAG repeats, and the Scale for the Assessment and Rating of Ataxia (SARA) score were correlated with SD-OCT measurements, including retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, macular volume (MV), and central macular thickness (CMT)...
November 30, 2023: Cerebellum
#28
Yizhe Cheng, Xinyu Liu, Limei Sun, Xiaoyan Ding
Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular features caused by the CLCN2 mutations remain poorly understood and seldom reported. This study aims to present a novel mutation and characterize the ocular phenotype in a Chinese female diagnosed with CLCN2 -related leukoencephalopathy (CC2L), also known as leukoencephalopathy with ataxia (LKPAT; MIM #615651). Case presentation: A 20-year-old Chinese female presented with bilateral blurred vision persisting for 2 years, which had worsened over the past 6 months...
2023: Frontiers in Genetics
#29
REVIEW
Ranita Ghosh Dastidar, Saradindu Banerjee, Piyush Behari Lal, Somasish Ghosh Dastidar
AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial membrane involved in mitochondrial quality control of several nuclear- and mitochondrial-encoded proteins. Mutations in AFG3L2 lead to diseases like slow progressive ataxia, which is a neurological disorder. This review delineates the cellular functions of AFG3L2 and its dysfunction that leads to major clinical outcomes, which include spinocerebellar ataxia type 28, spastic ataxia type 5, and optic atrophy type 12. It summarizes all relevant AFG3L2 mutations associated with the clinical outcomes to understand the detailed mechanisms attributable to its structure-related multifaceted roles in proteostasis and quality control...
November 28, 2023: Molecular Neurobiology
#30
REVIEW
Chiara Ciancimino, Mariachiara Di Pippo, Gregorio Antonio Manco, Silvia Romano, Giovanni Ristori, Gianluca Scuderi, Solmaz Abdolrahimzadeh
The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests...
November 6, 2023: Life
#31
Angela Lee, Renatta Knox, Margaret Reynolds, Erin McRoy, Hoanh Nguyen
Phospho-ribosyl-pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1 . This enzyme generates phospho-ribosyl-pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other metabolic pathways. Arts syndrome, or severe PRPS1 deficiency, is an X-linked condition characterized by congenital sensorineural hearing loss, optic atrophy, developmental delays, ataxia, hypotonia, and recurrent infections that can cause progressive clinical decline, often resulting in death before 5 years of age...
November 2023: JIMD Reports
#32
JOURNAL ARTICLE
K P Divya, Ajith Cherian, Hemanga Kumar Dhing, Savith Kumar, Bejoy Thomas, Mohammed Faruq
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin. OBJECTIVE: To provide new insight into the occurrence of SACS mutations in South India. METHODS: Patients with three cardinal features of ARSACS-peripheral neuropathy, cerebellar ataxia, and pyramidal tract signs were included...
October 29, 2023: Acta Neurologica Belgica
#33
JOURNAL ARTICLE
Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese
A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The usual procedure for sizing these expansions is based on Southern Blotting (SB), a time-consuming and a relatively imprecise technique. In this paper, we compare SB with Optical Genome Mapping (OGM), a method for detecting Structural Variants (SVs) based on the measurement of distances between fluorescently labelled probes, for the diagnosis of RFC1 CANVAS and disease spectrum...
October 19, 2023: Biomolecules
#34
JOURNAL ARTICLE
Jacqueline A Moncivais, Justyna Piszczor, Jessica Yang, Joseph W Fink
OBJECTIVE: Cerebral anoxia is the absence or near absence of oxygen in the brain's arterial blood supply. One cause of cerebral anoxia is acute cardiorespiratory failure, which, if left untreated, can lead to brain tissue necrosis, causing an anoxic brain injury (AnBI). AnBI causes a range of motor and cognitive deficits, though long-term (> 2.0 years) neuropsychological sequelae of AnBI are not well understood. METHOD: A 66-year-old female presented for a neuropsychological evaluation 5...
October 8, 2023: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
#35
JOURNAL ARTICLE
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D'Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
AFG3L2 is a mitochondrial protease exerting protein quality control in the inner mitochondrial membrane (IMM). Heterozygous AFG3L2 mutations cause Spinocerebellar Ataxia type 28 (SCA28) or Dominant Optic Atrophy type 12 (DOA12), while biallelic AFG3L2 mutations result in the rare and severe Spastic Ataxia type 5 (SPAX5). The clinical spectrum of SPAX5 includes childhood-onset cerebellar ataxia, spasticity, dystonia, and myoclonic epilepsy. We previously reported that the absence or mutation of AFG3L2 leads to the accumulation of mitochondria-encoded proteins, causing the over-activation of the stress-sensitive protease OMA1, which over-processes OPA1, leading to mitochondrial fragmentation...
October 7, 2023: Brain
#36
JOURNAL ARTICLE
Mark Rabinovich, Olivia Zambrowski, Alexandra Miere, Rakia Bhouri, Eric Souied
AIM: We describe the ophthalmic manifestations of Neuropathy, ataxia, retinitis pigmentosa (NARP) syndrome in three related patients. METHODS: We examined a mother and her two children, who were carriers of the mt 8993T>G mutation. The mother, patient I, is the first known carrier within the family pedigree. Patients II and III are her children from a non-carrier father. NARP syndrome and the heteroplasmy levels were established prior to the first referral of the patients to the Ophthalmology department...
September 6, 2023: Ophthalmic Genetics
#37
Joohyun Park, Arianna Tucci, Valentina Cipriani, German Demidov, Clarissa Rocca, Jan Senderek, Michaela Butryn, Ana Velic, Tanya Lam, Evangelia Galanaki, Elisa Cali, Letizia Vestito, Reza Maroofian, Natalie Deininger, Maren Rautenberg, Jakob Admard, Gesa-Astrid Hahn, Claudius Bartels, Nienke J H van Os, Rita Horvath, Patrick F Chinnery, May Yung Tiet, Channa Hewamadduma, Marios Hadjivassiliou, Susan M Downes, Andrea H Németh, George K Tofaris, Nicholas W Wood, Stefanie N Hayer, Friedemann Bender, Benita Menden, Isabell Cordts, Katrin Klein, Huu Phuc Nguyen, Joachim K Krauss, Christian Blahak, Tim M Strom, Marc Sturm, Bart van de Warrenburg, Holger Lerche, Boris Maček, Matthis Synofzik, Stephan Ossowski, Dagmar Timmann, Marc E Wolf, Damian Smedley, Olaf Riess, Ludger Schöls, Henry Houlden, Tobias B Haack, Holger Hengel
No abstract text is available yet for this article.
August 31, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#38
JOURNAL ARTICLE
Luíza Alves Corazza, Vinícius Lopes Braga, Thiago Yoshinaga Tonholo Silva, Flávio Moura Rezende Filho, Juliana Maria Ferraz Sallum, Orlando Graziani Povoas Barsottini, José Luiz Pedroso
No abstract text is available yet for this article.
August 2023: Movement Disorders Clinical Practice
#39
JOURNAL ARTICLE
Sonal Sharma, Sergey Magnitsky, Emily Reesey, Mitchell Schwartz, Suraiya Haroon, Manuela Lavorato, Sherine Chan, Rui Xiao, Benjamin J Wilkins, Daniel Martinez, Christoph Seiler, Marni J Falk
Zebrafish ( Danio rerio ) is a widely used vertebrate animal for modeling genetic diseases by targeted editing strategies followed by gross phenotypic and biomarker characterization. While larval transparency permits microscopic detection of anatomical defects, histological adult screening for organ-level defects remains invasive, tedious, inefficient, and subject to technical artifact. Here, we describe a noninvasive magnetic resonance imaging (MRI) approach to systematically screen adult zebrafish for anatomical growth defects...
August 21, 2023: Zebrafish
#40
JOURNAL ARTICLE
Chella M Robles, Britt Anderson, Sean P Dukelow, Christopher L Striemer
The cerebellum is known to play an important role in the coordination and timing of limb movements. The present study focused on how reach kinematics are affected by cerebellar lesions to quantify both the presence of motor impairment, and recovery of motor function over time. In the current study, 12 patients with isolated cerebellar stroke completed clinical measures of cognitive and motor function, as well as a visually guided reaching (VGR) task using the Kinarm exoskeleton at baseline (∼2 weeks), as well as 6, 12, and 24-weeks post-stroke...
August 18, 2023: Neuropsychologia
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