Results 11 to 20 of about 114,557 (289)

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia

Journal of Veterinary Internal Medicine, 2023
Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti   +10 more
doaj   +1 more source

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

European Journal of Neurology, 2022
Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures.
H. Garcia-Moreno, M. Prudencio, Gilbert Thomas-Black, N. Solanky, Karen R. Jansen-West, R. Hanna Al-Shaikh, A. Heslegrave, H. Zetterberg, M. Santana, L. Pereira de Almeida, Ana Vasconcelos-Ferreira, C. Januário, J. Infante, J. Faber, T. Klockgether, K. Reetz, M. Raposo, Ana F. Ferreira, M. Lima, L. Schöls, M. Synofzik, Jeannette Hübener-Schmid, A. Puschmann, Sorina Gorcenco, Z. Wszolek, L. Petrucelli, P. Giunti   +26 more
semanticscholar   +1 more source

Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3

Movement Disorders, 2022
Measures of step variability and body sway during gait have shown to correlate with clinical ataxia severity in several cross‐sectional studies. However, to serve as a valid progression biomarker, these gait measures have to prove their sensitivity to ...
W. Ilg, Björn Müller, J. Faber, J. van Gaalen, H. Hengel, I. Vogt, G. Hennes, B. V. D. van de Warrenburg, T. Klockgether, L. Schöls, M. Synofzik   +10 more
semanticscholar   +1 more source

Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3

Annals of Neurology, 2022
This study was undertaken to identify magnetic resonance (MR) metrics that are most sensitive to early changes in the brain in spinocerebellar ataxia type 1 (SCA1) and type 3 (SCA3) using an advanced multimodal MR imaging (MRI) protocol in the multisite ...
Jayashree Chandrasekaran, Emilien Petit, Y. Park, S. Tezenas du Montcel, J. Joers, D. Deelchand, M. Považan, Guita Banan, R. Valabrègue, P. Ehses, J. Faber, P. Coupé, C. Onyike, P. Barker, J. Schmahmann, E. Ratai, S. Subramony, T. Mareci, K. Bushara, H. Paulson, A. Durr, T. Klockgether, T. Ashizawa, C. Lenglet, G. Öz, L. Rosenthal, M. Burns, M. Grobe-Einsler, D. Oender, O. Kimmich, Nina Roy, C. Ewenczyk, Anna Heinzmann, P. Lallemant, S. Heide, P. Charles, Giulia Coarelli, Paulina Cunha, Sabrina Sayah, G. Wilmot, L. Scorr, P. Opal, S. Sha, V. Santini, J. Sampson, S. Perlman, M. Geschwind, AlexandraB . Nelson, Cameron Dietiker, Christopher A. A. Gomez, Trevor K. Hawkins, P. Morrison   +51 more
semanticscholar   +1 more source

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

Annals of Neurology, 2022
Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the SCA25 locus.
M. Barbier, M. Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M. Tankard, C. Ewenczyk, Kayli C. Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, N. Auger, Brendan R. E. Ansell, Ivo Stelt, Katherine B Howell, Marie Coutelier, David J. Amor, E. Mundwiller, L. Guillot-nöel, E. Storey, R. J. M. Gardner, Mathew J. Wallis, A. Brusco, O. Corti, A. Rötig, R. Leventer, A. Brice, Martin B. Delatycki, G. Stevanin, Paul J Lockhart, A. Durr   +29 more
semanticscholar   +1 more source

Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

Frontiers in Human Neuroscience, 2023
The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family ...
Shuling Chen, Siyu Li, Ying Liu, Renyi She, Wei Jiang   +4 more
doaj   +1 more source

Dopa-responsive parkinsonism without cerebellar ataxia in spinocerebellar ataxia 6. [PDF]

Clin Park Relat Disord
Yoshida S, Takahashi T, Suzuki N, Tobita M.   +3 more
europepmc   +2 more sources

Spinocerebellar ataxia clinical trials: opportunities and challenges

Annals of Clinical and Translational Neurology, 2021
The spinocerebellar ataxias (SCAs) are a group of dominantly inherited diseases that share the defining feature of progressive cerebellar ataxia. The disease process, however, is not confined to the cerebellum; other areas of the brain, in particular ...
Sarah M Brooker, Chandrakanth Reddy Edamakanti, Sara M Akasha, S. Kuo, P. Opal   +4 more
semanticscholar   +1 more source

A Case of Orthognathic Surgery for Jaw Deformity in a Patient with Spinocerebellar Ataxia

Plastic and Reconstructive Surgery, Global Open, 2022
Summary:. Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that can cause various ataxia symptoms. Here we report a patient with spinocerebellar ataxia who underwent orthognathic surgery to correct a mandibular protrusion with ...
Marika Sato, DDS, PhD, Yoko Kawase-Koga, DDS, PhD, Hayato Hamada, DDS, PhD, Daichi Chikazu, DDS, PhD   +3 more
doaj   +1 more source