نتایج جستجو برای: ataxia with ocular motor apraxia

تعداد نتایج: 9275574  

2016
Kerstin Ure Hui Lu Wei Wang Aya Ito-Ishida Zhenyu Wu Ling-Jie He Yehezkel Sztainberg Wu Chen Jianrong Tang Huda Y Zoghbi

The postnatal neurodevelopmental disorder Rett syndrome, caused by mutations in MECP2, produces a diverse array of symptoms, including loss of language, motor, and social skills and the development of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures. Surprisingly, despite the diversity of these features, we have found that deleting Mecp2 only from GABAergic inh...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1920

Journal: :Age and ageing 2003
Richard Liston Jane Mickelborough Jacqueline Bene Raymond Tallis

BACKGROUND cerebral multi-infarct states may lead to gait disorders in the absence of cognitive impairment. Where these gait disorders occur in the absence of neurological signs they have been termed gait apraxia or more recently higher-level gait disorders. In this paper we hypothesise three main types based on presumptive sites of anatomical damage: (a) Ignition Apraxia, where damage is predo...

Journal: :Neuropediatrics 1993
C M Harris J Walker F Shawkat J Wilson I Russell-Eggitt

Eye movement abnormalities consisting of poor or absent smooth pursuit and vestibulo-ocular reflex suppression, gaze-paretic and rebound nystagmus, slow build-up of optokinetic nystagmus, mildly hyperactive vestibulo-ocular reflex, and a high incidence of strabismus were inherited in an autosomal dominant fashion in 10 members of a non-consanguineous English caucasian family. The onset was in e...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1994
R Leiguarda A J Lees M Merello S Starkstein C D Marsden

Although apraxia is one of the most frequent signs in corticobasal degeneration, the phenomenology of this disorder has not been formally examined. Hence 10 patients with corticobasal degeneration were studied with a standardised evaluation for different types of apraxia. To minimise the confounding effects of the primary motor disorder, apraxia was assessed in the least affected limb. Whereas ...

Journal: :European Journal of Radiology 2019

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