Results 61 to 70 of about 3,355 (169)

Friedreich's Ataxia and Glucose Metabolism

Pediatric Neurology Briefs, 1988
Glucose metabolism was investigated in 21 patients with FA at the Instituto Neurogico, Cattedra di Clinica Medica, Milan, Italy.
J Gordon Millichap
doaj   +1 more source

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +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

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

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese, Gabriele Bonetti, Elena Manara, Benedetta Tanzi, Andrea Bernini, Mark A. Berryman, Soichi Tanda, Corinne Nielsen, Silvia Casagrande, Amanda Ferrero, Salvatore Stano, Riccardo Zuccarino, Andrea Barp, Pietro Chiurazzi, Matteo Bertelli   +14 more
wiley   +1 more source

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Nature Communications, 2020
Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by ...
Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, Simone Brusco, Matteo Jacopo Marzi, Cecilia Palma, Gaia Colasante, Angelo Iannielli, Marianna Paulis, Chiara Cordiglieri, Serena Gea Giannelli, Paola Podini, Cinzia Gellera, Franco Taroni, Francesco Nicassio, Marco Rasponi, Vania Broccoli   +19 more
doaj   +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

Friedreich’s Ataxia with Retained Reflexes

Pediatric Neurology Briefs, 1995
Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, including cardiomyopathy, but retained reflexes (FARR), are reported from the University of Naples and C Besta Neurological Institute, Milan, Italy; and La ...
J Gordon Millichap
doaj   +1 more source

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Disease Models & Mechanisms, 2012
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli, Marek Napierala, Hélène Puccio   +2 more
doaj   +1 more source

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Antioxidants
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti   +9 more
doaj   +1 more source