Results 61 to 70 of about 9,290 (208)

Ataxias cerebelares hereditárias: do martelo ao gen Hereditary cerebellar ataxias from neurological hammer to genetics

Arquivos de Neuro-Psiquiatria, 1997
As heredoataxias constituem grupo complexo de doenças neurodegenerativas hereditárias, para o qual várias formas de classificação clínica e patológica foram propostas com sucesso variável.
Walter Oleschko Arruda, Hélio A. Ghizoni Teive   +1 more
doaj   +1 more source

Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Nomlabofusp is a recombinant, cell‐penetrating human frataxin (hFXN) fusion protein in development for the treatment of Friedreich's ataxia (FRDA). This study evaluated whether nomlabofusp‐derived hFXN concentrations covary across accessible peripheral matrices and FRDA‐relevant tissues, supporting the feasibility of surrogate tissue sampling ...
Flavia De Toni, Mohamed Hamdani, Chintan Patadia, Gopi Shankar   +3 more
wiley   +1 more source

Ataxia with vitamin E deficiency associated with deafness

The Turkish Journal of Pediatrics, 2008
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption.
Bülent Kara, Abdullah Uzümcü, Oya Uyguner, Rasim Ozgür Rosti, Ayça Koçbaş, Meral Ozmen, Hülya Kayserili   +6 more
doaj  

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

Annals of Clinical and Translational Neurology
Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS).
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer   +16 more
doaj   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 714-723, April 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Friedreich Ataxia

Pediatric Neurology
Williams CT, Maheshwary A.
europepmc   +3 more sources

Long-Term Follow-Up of Friedreich Ataxia Patients

Pediatric Neurology Briefs, 2007
The results of a long-term prospective follow-up of 104 Friedreich ataxia patients are reported from the Salpetriere Hospital, Paris, and other centers in France.
J Gordon Millichap
doaj   +1 more source

Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia

Annals of Clinical and Translational Neurology, 2020
Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS).
Gilles Naeije, Myriam Rai, Nick Allaerts, Martin Sjogard, Xavier De Tiège, Massimo Pandolfo   +5 more
doaj   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 807-818, April 2026.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Genetics and Friedreich Ataxia

Pediatric Neurology Briefs, 2002
The effects of genetic understanding on clinical evaluation and therapy of Friedreich ataxia (FRDA) are reviewed from the University of Pennsylvania School of Medicine, Philadelphia.
J Gordon Millichap
doaj   +1 more source