Results 61 to 70 of about 2,429 (159)

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Orphanet Journal of Rare Diseases, 2013
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of
Fujioka Shinsuke, Sundal Christina, Wszolek Zbigniew K   +2 more
doaj   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 36-48, January 2026.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source

Assessment of Cerebral and Cerebellar White Matter Microstructure in Spinocerebellar Ataxias 1, 2, 3, and 6 Using Diffusion MRI

Frontiers in Neurology, 2020
Development of imaging biomarkers for rare neurodegenerative diseases such as spinocerebellar ataxia (SCA) is important to non-invasively track progression of disease pathology and monitor response to interventions. Diffusion MRI (dMRI) has been shown to
Young Woo Park, James M. Joers, Bin Guo, Diane Hutter, Khalaf Bushara, Isaac M. Adanyeguh, Lynn E. Eberly, Lynn E. Eberly, Gülin Öz, Christophe Lenglet   +9 more
doaj   +1 more source

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +1 more source

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements, 2017
Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ...
Shi-Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher ‎ M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikramq G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo   +19 more
doaj   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, Volume 41, Issue 7, Page 1661-1665, July 2026.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

Physiotherapy in Spinocerebellar Ataxia Following COVID‐19: A Biomechanical and Biopsychosocial Case Report

Physiotherapy Research International, Volume 31, Issue 1, January 2026.
ABSTRACT Background and Purpose Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disorder characterized by impaired postural control, coordination deficits, and functional limitations. Despite evidence supporting physiotherapy interventions, standardized rehabilitation protocols remain scarce.
Luiz Humberto Figueiredo Monteiro, Isabela Natalia de Souza Rêgo, Ana Beatriz Souza da Conceição, Hugo Miranda de Souza Coroa, Brenno Ribeiro Braz, Suellen Alessandra Soares de Moraes   +5 more
wiley   +1 more source

ATAXIA ESPINOCEREBELAR: UMA REVISÃO INTEGRATIVA SOBRE SCA1, SCA2, SCA3 E SCA6 [PDF]

Spinocerebellar ataxias (SCAs) are genetically acquired dominant diseases that cause neurodegeneration. Although they mainly affect the cerebellum and spinal cord, other areas of the nervous system, such as the basal ganglia and the cerebral cortex, are ...
Lupi Junior, Luiz Antonio, De Mello Fernandes, Jonathan Jordão, Dourado Faria, Giovanna Cristina, Moreira Lemos, Julia, Quevedo, Ana Luíza   +4 more
core   +1 more source

Digital Transformation and Sustainable Supply Chain Performance for Sustainable Development: The Mediating Role of Supply Chain Capabilities

Sustainable Development, Volume 34, Issue S1, Page 611-637, January 2026.
ABSTRACT In the era of digital transformation (DT), achieving sustainable supply chain performance (SSCP) has become a strategic imperative for manufacturing firms. While DT is widely recognized as a key enabler of sustainability, its specific influence on SSCP, particularly through the mediating roles of supply chain agility (SCA), supply chain ...
Moustafa Elnadi, Mohamed Hani Gheith, Ciro Troise, Yasser Omar Abdallah, Mahmoud Abdelaziz Ahmed Abdelaziz   +4 more
wiley   +1 more source

Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: Impact on clinical status

, 2022
S.890-897BACKGROUND AND PURPOSE: Cerebellar and brain stem atrophy are important features in SCA3, whereas SCA6 has been regarded as a "pure" cerebellar disease.
Lukas, C., Köster, O., Schöls, L., Bellenberg, B., Hahn, H.K., Eichler, L.   +5 more
core   +1 more source