Results 1 to 10 of about 6,384 (202)

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis [PDF]

Acta Neuropathologica Communications
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease whose exact disease pathogenesis is not yet fully understood. We performed a genetic in-depth analysis of ataxin-2 (ATXN2), a gene that has already been described as a modulator of ...
Jennifer Faber, Berkan Koyak, Jeroen de Vries   +2 more
exaly   +6 more sources

Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model

Frontiers in Molecular Neuroscience, 2021
Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3. The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent impact on the regulation ...
Lukasz Marczak, Julien Flament, Kalina Wiatr   +2 more
exaly   +3 more sources

Mapping the Disrupted Connectome in Spinocerebellar Ataxia Type 3: A Network-Based Statistics Study Identifying Novel Therapeutic Targets for Neuromodulation. [PDF]

CNS Neurosci Ther
This study identifies a dual pattern of structural and functional connectome disruption in SCA3 that correlates with clinical severity. Importantly, these abnormal structural connectivities are modulated by TMS, establishing them as promising imaging biomarkers and therapeutic targets for precision neuromodulation intervention.
Ou L, Zhou C, Wang X, Shi L, Ou P, Xiang C, Chen H, Chen X, Wang B, Chen W, Wang J, Long Z, Liu C.   +12 more
europepmc   +2 more sources

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado-Joseph Disease Presenting as Charcot-Marie-Tooth Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary ...
Lim ECN, Lim CED.
europepmc   +2 more sources

Pathogenesis of SCA3 and implications for other polyglutamine diseases

Neurobiology of Disease, 2020
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six ...
Henry Paulson, Hayley S McLoughlin
exaly   +4 more sources

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia. [PDF]

Mov Disord
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Robertson JW, Adanyeguh I, Arpin DJ, Ashizawa T, Bender B, Cendes F, Chen X, Coarelli G, Coutinho L, Deistung A, Dogan I, Durr A, Faber J, ESMI MR Study Group, Fernandez-Ruiz J, Ferreira M, França MC, Göricke SL, Han S, Klockgether T, Liu C, Luo J, Martinez ARM, Ono SE, Onyike CU, Öz G, EUROSCA MR Study Group, Paulson H, Prince JL, Reetz K, Rezende TJR, Synofzik M, Ghizoni Teive HA, Thomopoulos SI, Thompson PM, Timmann D, Vaillancourt D, van de Warrenburg B, van Gaalen J, Wang X, Wegner P, Ying SH, Harding IH, Hernandez-Castillo CR.   +43 more
europepmc   +2 more sources

Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice

Neurobiology of Disease
Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia and belongs to the family of nine diseases caused by a polyglutamine expansion in the disease-causing protein.
Alexandra F. Putka, Varshasnata Mohanty, Stephanie M. Cologna, Hayley S. McLoughlin   +3 more
doaj   +4 more sources

Mesenchymal Stem Cell-Based Therapy for Cerebellar Ataxia: From Bench to Bedside. [PDF]

CNS Neurosci Ther
Allogeneic hMSCs transplanted across LPS, Ara‐C, and SCA2 cerebellar ataxia (CA) models suppress neuroinflammation and restore the neurotrophin axis, collectively preserving Purkinje cell integrity. These preclinical findings are being translated clinically, from a first‐in‐human case report to an ongoing Phase II/III randomized trial (NCT02540655 ...
Suk K, Lee HW, Kim SR.
europepmc   +2 more sources

Value of MRI Outcomes for Preventive and Early-Stage Trials in Spinocerebellar Ataxias 1 and 3. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Rezende TJR, Petit E, Park YW, du Montcel ST, Joers JM, DuBois JM, Arnold HM, Povazan M, Özdemir I, Banan G, Valabregue R, Ehses P, Faber J, Onyike CU, Barker PB, Schmahmann JD, Ratai EM, Subramony SH, Mareci TH, Bushara KO, Paulson H, Klockgether T, Durr A, Ashizawa T, Lenglet C, Öz G, READISCA Investigators.   +26 more
europepmc   +2 more sources

Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3 [PDF]

Frontiers in Cellular Neuroscience
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by polyglutamine repeat expansion in the ATXN3 gene. Despite the ubiquitous expression of ATXN3 throughout the body, SCA3 pathology is most pronounced in select, vulnerable ...
Jacen Emerson, Jacen Emerson, Brianna S. Nelthrope, Emma A. Walker, Grace Mao, Hannah K. Shorrock, Hayley S. McLoughlin, Hayley S. McLoughlin   +7 more
doaj   +2 more sources