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Cerebral abnormalities in Friedreich ataxia: A review.
Neurosci Biobehav Rev
January 2018
School of Psychological Sciences & Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia. Electronic address:
Friedreich ataxia (FRDA) is an inherited degenerative disorder affecting multiple systems of the body and resulting in symptoms which include progressive ataxia, dysarthria, and cardiomyopathy. Central nervous system pathology has been traditionally ascribed to the spinal cord and dentate nucleus of the cerebellum. However, cerebral abnormalities in FRDA are being increasingly documented via multiple neuroimaging techniques.
View Article and Find Full Text PDFFunctional consequences of oculomotor disorders in hereditary cerebellar ataxias.
Cerebellum
June 2013
Service d'Ophtalmologie, AP-HP, Hôpital Pitié Salpêtrière, Paris, France.
Saccadic eye movements are traditionally cited as an especially successful combination of accuracy and velocity, such high level of performances being believed to be crucial for optimal vision. Although the structures subtending these properties are now well recognized, very little is known about the functional consequences on visually guided behaviors of reduced saccade performances, i.e.
View Article and Find Full Text PDF[Autosomal recessive cerebellar ataxias].
Rev Neurol (Paris)
May 2011
Service de neurogénétique, hôpital de la Pitié-Salpêtrière, 75651 Paris, France.
Introduction: Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous and complex inherited neurodegenerative diseases that may affect the cerebellum and/or the spinocerebellar tract, the posterior column of the spinal cord and the peripheral nerves. Cerebellar ataxia is frequently proeminent and mostly associated with several neurological or extra-neurological signs, leading to a major disability before the age of 30.
State Of Art: Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fifteen years such as ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2), ataxia with vitamin E deficiency (AVED) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia?
Clin Cardiol
February 1997
Department of Internal Medicine, Federico II University of Naples, School of Medicine, Italy.
Background: Although heart involvement has been widely reported in Friedreich's ataxia (FA), which is the most prevalent of the spino-cerebellar degenerative diseases, the reason that cardiac abnormalities develop has not been yet established.
Hypothesis: The investigation was undertaken to study the prevalence and characteristics of cardiac abnormalities in patients with FA and to evaluate whether the presence of left ventricular hypertrophy could be predicted.
Methods: In all, 75 patients with FA and 16 patients with late onset FA (LOFA) disease were investigated for cardiac abnormalities using noninvasive methods.
Primary cerebellar and spino-cerebellar ataxia an MRI study on 63 cases.
J Neuroradiol
June 1995
Department of Neuroradiology, University of Turin, Molinette Hospital.
63 patients with primary cerebellar and spinocerebellar ataxia have been studied with MRI. This method allows to identify in vivo different groups of diseases such as that characterized by atrophy of cerebellum alone; that with atrophy of cerebellum associated with brainstem changes; the forms with associated changes of basal ganglia; the forms with spinal cord atrophy alone, as well as transitional forms. An interesting correlation between the varying groups and the type of inheritance was found, while no correlation with other clinical aspects was observed.
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