Results 91 to 100 of about 7,170 (177)

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +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 in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon? [PDF]

, 2018
Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene.
Alsina Obiols, David, Purroy, Rosa, Ros Salvador, Joaquim, Tamarit Sumalla, Jordi   +3 more
core   +2 more sources

Huntington's disease phenocopies are clinically and genetically heterogeneous [PDF]

, 2008
Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable.
Beck, J, Bhatia, KP, Davis, MB, Mudanohwo, EE, Rossor, MN, Schneider, SA, Sweeney, MG, Tabrizi, SJ, Wild, EJ   +8 more
core   +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

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology [PDF]

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Al-Mahdawi, S, Blake, J, Cooper, JM, Hughes, S, King, R, Lawrence, L, Lowrie, MB, Pinto, RM, Pook, MA, Varshney, D, Webster, Z   +10 more
core  

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +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

Pharmacokinetics and metabolism of idebenone in healthy male subjects [PDF]

, 2018
Purpose: Idebenone is a synthetic analogue of ubiquinone that may be beneficial in the treatment of Friedreich's ataxia. Since in previous pharmacokinetic trials only lower doses were studied, it was the aim of this study to evaluate the pharmacokinetics
Bodmer, Michael, Dreier, Manfred, Drewe, Jürgen, Kutz, Klaus, Vankan, Pierre   +4 more
core