Results 1 to 10 of about 2,429 (159)

The Oldest Known Case of SCA6 : Diagnostic Insights from a 101‐Year‐Old Woman with Progressive Ataxia [PDF]

Movement Disorders Clinical Practice
Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 1098-1100, April 2026.
Labaure N, Longardner K.
exaly   +3 more sources

Loss of Flocculus Purkinje Cell Firing Precision Leads to Impaired Gaze Stabilization in a Mouse Model of Spinocerebellar Ataxia Type 6 (SCA6)

Cells, 2022
Spinocerebellar Ataxia Type 6 (SCA6) is a mid-life onset neurodegenerative disease characterized by progressive ataxia, dysarthria, and eye movement impairment.
Hui Ho Vanessa Chang, Anna A. Cook, Alanna J. Watt, Kathleen E. Cullen   +3 more
doaj   +2 more sources

Diagnostic efficacy of the magnetic resonance T1w/T2w ratio for the middle cerebellar peduncle in multiple system atrophy and spinocerebellar ataxia: A preliminary study. [PDF]

PLoS ONE, 2022
BackgroundThe standardized T1-weighted/T2-weighted (sT1w/T2w) ratio for the middle cerebellar peduncle (MCP) has been reported to be sensitive for detecting degenerative changes in the cerebellar subtype of multiple system atrophy (MSA-C), even in the ...
Jiaqi Wang, Atsuhiko Sugiyama, Hajime Yokota, Shigeki Hirano, Graham Cooper, Hiroki Mukai, Kenji Ohira, Kyosuke Koide, Shoichi Ito, Carsten Finke, Alexander U Brandt, Friedemann Paul, Satoshi Kuwabara   +12 more
doaj   +3 more sources

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6. [PDF]

Ann Neurol
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Huang H, Charron TL, Fu M, Dunn M, Jones DM, Kumar P, Ishishita S, Pool AH, Kulkarni A, Konopka G, Shakkottai VG.   +10 more
europepmc   +2 more sources

Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality-Based Evaluation System. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Sato M, Abe T, Aoki S, Tsukagoshi S, Yuminaka Y, Ikeda Y.   +5 more
europepmc   +2 more sources

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients. [PDF]

Mov Disord Clin Pract
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Reniers CJM, Johansson ME, Huisman-Venrooij K, Toni I, Weerdesteyn V, van de Warrenburg BPC.   +5 more
europepmc   +2 more sources

Cacao floral traits are shaped by the interaction of flower position with genotype [PDF]

Heliyon
Understanding the factors influencing cacao flower morphology and abundance is essential for optimizing productivity. This study investigated the influence of vertical flower position and associated environmental and physiological gradients on these ...
Seunghyun Lim, Insuck Baek, Seok Min Hong, Yoonjung Lee, Silvas Kirubakaran, Moon S. Kim, Lyndel W. Meinhardt, Sunchung Park, Ezekiel Ahn   +8 more
doaj   +2 more sources

Pathogen-specific stomatal responses in cacao leaves to Phytophthora megakarya and Rhizoctonia solani [PDF]

Scientific Reports
Cacao is a globally significant crop, but its production is severely threatened by diseases, particularly Black Pod Rot (BPR) caused by Phytophthora spp.
Insuck Baek, Seunghyun Lim, Jae Hee Jang, Seok Min Hong, Louis K. Prom, Silvas Kirubakaran, Stephen P. Cohen, Dilip Lakshman, Moon S. Kim, Lyndel W. Meinhardt, Sunchung Park, Ezekiel Ahn   +11 more
doaj   +2 more sources

Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6

eLife, 2023
Spinocerebellar ataxia type 6 (SCA6) is a rare disease that is characterized by cerebellar dysfunction. Patients have progressive motor coordination impairment, and postmortem brain tissue reveals degeneration of cerebellar Purkinje cells and a reduced ...
Anna A Cook, Tsz Chui Sophia Leung, Max Rice, Maya Nachman, Élyse Zadigue-Dube, Alanna Jean Watt   +5 more
doaj   +1 more source

Age-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients

NeuroImage, 2023
Understanding cerebellar alterations due to healthy aging provides a reference point against which pathological findings in late-onset disease, for example spinocerebellar ataxia type 6 (SCA6), can be contrasted. In the present study, we investigated the
Dominik Jäschke, Katharina M. Steiner, Dae-In Chang, Jens Claaßen, Ellen Uslar, Andreas Thieme, Marcus Gerwig, Viktor Pfaffenrot, Thomas Hulst, Alexander Gussew, Stefan Maderwald, Sophia L. Göricke, Martina Minnerop, Mark E. Ladd, Jürgen R. Reichenbach, Dagmar Timmann, Andreas Deistung   +16 more
doaj   +1 more source