Results 81 to 90 of about 6,264 (195)

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, EarlyView.
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

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies [PDF]

, 2017
Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently.
Beis, Jean‐Marie, Brice, Alexis, Chamayou, Céline, Demarquay, Geneviève, Dürr, Alexandra, Habert, Marie‐Odile, Koenig, Michel, Kuntzer, Thierry, Le Ber, Isabelle, Moreira, Maria‐Ceù, Ochsner, François, Rivaud‐Péchoux, Sophie, Saïd, Gérard, Tannier, Christian, Tardieu, Marc   +14 more
core  

Auditory Neuropathy: Challenges and Significant Progress in Diagnosis and Treatment

Advanced Therapeutics, Volume 9, Issue 3, March 2026.
Auditory neuropathy is a complex disorder that causes sensorineural hearing impairment in patients. Recently, breakthrough progress has been made in the gene therapy of auditory neuropathy. This review focuses on auditory neuropathy, covering its pathophysiology, etiology, epidemiology, clinical manifestations, diagnostic techniques, treatment ...
Wen Xie, Ling Lu, Busheng Tong, Lian Fang, Qingqing Dai, Xiaowan Chen, Jieyu Qi, Xiaoyun Qian, Xia Gao, Renjie Chai, Jun Yang, Maoli Duan   +11 more
wiley   +1 more source

Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report

Radiology Case Reports
Friedreich's ataxia (FRDA) is a neurodegenerative disease characterized by progressive ataxia, dysarthria, sensory loss. While neurological symptoms are prominent, cardiac manifestations significantly contribute to mortality. Cardiomyopathy in Friedreich'
Yasmine Ouaddouh, MD, Salma Bouyaddid, MD, Zakaria Bazid, MD, PhD, Nabila Ismaili, MD, PhD, Noha El Ouafi, MD, PhD   +4 more
doaj   +1 more source

Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness [PDF]

, 1945
In an out-of-the-way part of the Country, such as the small group of islands constituting the County of Orkney, in which my practice lies, one does not readily light upon a subject suitable for a Thesis.The majority of cases with which one is called ...
Daniel Levy, Martin G Larson, Emelia J Benjamin, Christopher Newton-Cheh, Thomas J Wang, Shih-Jen Hwang, Ramachandran S Vasan, Gary F Mitchell, Levy, Daniel   +8 more
core   +2 more sources

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

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

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Ataxias heredodegenerativas [PDF]

, 2013
Descripción de las ataxias heredodegenerativas con énfasis en la semiología general de este tipo de enfermedades y la fisiopatología de los grandes grupos de ataxias.NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY ...
Amaya Sarachaga, Adriana, Pedraza Linares, Olga Lucía   +1 more
core   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source