نتایج جستجو برای: hereditary ataxia
تعداد نتایج: 100227 فیلتر نتایج به سال:
how to cite this article: shervin badv r, niksirat a. downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. iran j child neurol. 2013 autumn; 7(4):58- 60. objective episodic ataxia type 2 (ea2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus. we report a case of ea2, whic...
Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Con...
Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease. Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging thirteen patients with ataxia in the last five years were reported this study. Phenotypic expressions genetically proved mutation also reviewed. Results: We report ...
WHAT ARE HEREDITARY ATAXIAS? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...
What are Hereditary Ataxias? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...
"AS THE DISEASE progresses some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea". This is how Gowers in 1899 described the occurrence of titubation in hereditary ataxy in his book on the diseases of the nervous system. But this feature of hereditary ataxia seems to have r...
Old English Sheepdogs and Gordon Setters suffer from a juvenile onset, autosomal recessive form of canine hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex. The clinical and histological characteristics are analogous to hereditary ataxias in humans. Linkage and genome-wide association studies on a cohort of related Old English Sheepdogs identified a region on CF...
Pontocerebellar hypoplasia (PCH) comprises a rare group of neurodegenerative disorders with variable symptoms of cerebellar ataxia. Several gene mutations have been reported to be associated with different presentations of PCH. In the present study, an extended familial case of late‑onset hereditary ataxia mimicking PCH in respect of clinical manifestation, neuroradiological findings and geneti...
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomot...
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