Results 81 to 90 of about 7,267 (177)

Analysis of Postural Control in Sitting by Pressure Mapping in Patients with Multiple Sclerosis, Spinal Cord Injury and Friedreich’s Ataxia: A Case Series Study

Sensors, 2020
The postural control assessments in patients with neurological diseases lack reliability and sensitivity to small changes in patient functionality. The appearance of pressure mapping has allowed quantitative evaluation of postural control in sitting ...
María Mercedes Reguera-García, Raquel Leirós-Rodríguez, Lorena Álvarez-Barrio, Beatriz Alonso-Cortés Fradejas   +3 more
doaj   +1 more source

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, Volume 41, Issue 4, Page 909-920, April 2026.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes.
Rosmini, Stefania <1981>
core   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, Volume 41, Issue 4, Page 928-936, April 2026.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia [PDF]

, 2016
Purkinje cell pathology is a common finding in a range of inherited and acquired cerebellar disorders, with the degree of Purkinje cell injury dependent on the underlying aetiology.
Cook, Amelia, Kemp, Kevin, Kurian, Kathreena, Redondo, Juliana, Scolding, Neil, Wilkins, Alastair   +5 more
core   +3 more sources

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, Volume 41, Issue 4, Page 1034-1040, April 2026.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +1 more source

Pharmacological treatments for Friedreich ataxia [PDF]

, 2016
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties.
Brassington, R, Fahey, M, Kearney, M, Orrell, RW, Pandolfo, M   +4 more
core  

Human adipose stem cell-conditioned medium increases survival of Friedreich's Ataxia cells submitted to oxidative stress [PDF]

, 2012
Friedreich's ataxia (FA) is a multisystemic disorder characterized by progressive gait, ataxia, and cardiomyopathy. There are few treatments for this disease; thus, we analyzed in vitro the possible beneficial effect of adult stem cells in FA.
Bueno, Carlos Roberto, Estirado, Alicia, Jones, Jonathan, Martínez, Salvador, Redondo, Carolina   +4 more
core   +2 more sources

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich\u27s ataxia. [PDF]

, 2013
BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Belmonte, Matthew, Deutsch, Eric C, Egan, Elizabeth, Lynch, David R, Plasterer, Heather L, Rusche, James R   +5 more
core   +1 more source

Iron Storage in Friedreich’s Ataxia

Pediatric Neurology Briefs, 1999
To test the hypothesis that iron is increased in the cerebellum of patients with Friedreich’s ataxia (FA), a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast was used in 12 patients and 23 ...
J Gordon Millichap
doaj   +1 more source