نتایج جستجو برای: ataxia oculomotor apraxia 1 aoa1

تعداد نتایج: 2770963  

Journal: :Neurology India 2008
Tarun Nagpal Sanjay Pande

A two-year-old boy, born of non-consanguineous marriage was brought with delayed motor and language milestones. The parents had also noted abnormal eye movements and periodic breathing difficulty since early infancy. The child was third of three sibs and the other two sibs were normal. On examination, the child was hypotonic and mentally retarded and had severe truncal ataxia and oculomotor apr...

2014
Maurizio Giorelli Nunzia Alessandra Losignore Junia Bagnoli Pasquale Difazio Giovanni Bosco Zimatore

BACKGROUND Posterior cortical atrophy is a clinical syndrome that is characterized by the progressive loss of visuospatial integration and is associated with neurodegenerative conditions. CASE REPORT We describe a 60-year-old female with simultanagnosia, oculomotor apraxia, and optic ataxia for which she received an initial clinical diagnosis of posterior cortical atrophy. Three years later, ...

سخایی , ناهید, غفاری , جواد, مسیحا , فرزاد,

Ataxia-telangiectasia syndrome is an autosomal recessive associated with combined immunodeficiency, progressive cerebellum ataxia, telangiectasia, ocolomotor apraxia, dysartheria and respiratory infections. In this study we reported three cases from a family with classical symptoms. Second sibling was died at 13 old years because severe respiratory infection but third and forth siblings have ...

2016
Luciana Chessa Roberto Micheli Anna Molinaro

Ataxia Telangiectasia (AT) is a rare worldwide disease inherited as autosomal recessive with a poor prognosis in its classical form. It is characterized by neurological impairment (progressive cerebellar ataxia, axonal peripheral neuropathy, oculomotor apraxia, and movement disorders such as dystonia, choreoathetosis, myoclonus, tremor, Parkinsonism), telangiectasias, recurrent sino pulmonary i...

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