Results 61 to 70 of about 3,973 (174)
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
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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 +5 more
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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 +11 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
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Prediction of the disease course in Friedreich ataxia
Scientific Reports, 2022 We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinations of 602 ...
Christian Hohenfeld +24 more
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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 +11 more
wiley +1 more source
ATAXIA DE FRIEDREICH: RELATO DE UM CASO COM MANIFESTAÇÃO TARDIA
Arquivos de Ciências da Saúde da UNIPAR, 2011 A Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, que foi descrita pela primeira vez por Nicholaus Friedreich, em 1863.
Daniela Carvalho Cardozo +1 more
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Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Friedreich's ataxia (FA) is a rare autosomal recessive neurodegenerative disorder. Although FA is frequently associated with cardiomyopathy and diabetes mellitus, its coexistence with solid malignancies is exceptionally rare. To date, only a limited number of gastrointestinal cancers have been reported in patients with FA.
Alireza Mehrban +5 more
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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 +6 more
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Autosomal recessive cerebellar ataxias
Orphanet Journal of Rare Diseases, 2006 Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal ...
Palau Francesc, Espinós Carmen
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