X-linked disorders with cerebellar dysgenesis
نویسندگان
چکیده
منابع مشابه
X-linked disorders with cerebellar dysgenesis
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome. The neurological features of XLCD include hypotonia, developmental delay, intellectual disabili...
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x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...
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The MR imaging findings in two patients with the clinical diagnosis of oculomotor apraxia are presented. Both cases showed dysgenesis of the cerebellar vermis, and the colliculi were fused in one patient. No supratentorial abnormalities were seen in either patient.
متن کاملSaccadic movements in subjects with cerebellar disorders.
UNLABELLED Saccades are part of the electrooculography tests battery. The cerebellum has important connections with the brainstem and thalamic structures involved in the generation of saccades. AIM to study saccadic movements in subjects with cerebellar disorders. STUDY METHOD Prospective clinical study. MATERIALS AND METHODS 11 subjects with cerebellar disorders were selected, together w...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2011
ISSN: 1750-1172
DOI: 10.1186/1750-1172-6-24