Periodic Alternating Gaze and 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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대한신경과학회지 22권 5호 548 Periodic alternating nystagmus (PAN) is a rare type of spontaneous horizontal nystagmus, characterized by periodical reverse of direction with a transition period in between. PAN can occur in both congenital and acquired forms. We report a patient with acquired PAN associated with meningoencephalitis. To our knowledge, only a case of congenital PAN has been previously report...
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Patients with chronic bilateral vestibular loss have large gaze variability and experience disturbing oscillopsia, which impacts physical and social functioning, and quality of life. Gaze variability and oscillopsia in these patients are attributed to a deficient vestibulo-ocular reflex, i.e. impaired online feedback motor control. Here, we assessed whether the lack of vestibular input also aff...
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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 کاملAnti-GAD antibodies and periodic alternating nystagmus.
BACKGROUND Autoantibodies directed against glutamic acid decarboxylase (GAD-Ab) have recently been described in a few patients with progressive cerebellar ataxia, suggesting an autoimmune physiopathologic mechanism. OBJECTIVE To determine the exact role of GAD-Ab and gamma-aminobutyric acid (GABA)-ergic neurotransmission in the pathogenesis of cerebellar ataxia. DESIGN Case report. SETTIN...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1992
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-6-10-9