The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…A case of Aceruloplasminemia with vertical saccadic eye movement abnormalities
Objective: We describe the phenotype, video-oculagraphic and neuroradiological findings of a case of aceruloplasminemia (AC). Background: Aceruloplasminemia presents in adulthood and is characterized by microcytic…Hyperammonemic Encephalopathy as Primary Cause of Movement Disorders: Report of Two Cases
Objective: We report two cases of movement disorders (MD) due to hyperammonemia. The first patient presented with noncirrhotic hyperammonemia after gastric bypass surgery(GBS) and the…Brain MRI-based discrimination between multiple system atrophy type cerebellar from other late onset sporadic cerebellar ataxias: a prospective study with implications for diagnosis criteria
Objective: To evaluate, in patients with sporadic late-onset cerebellar ataxia (SLOCA), the discriminative value of each of the magnetic resonance imaging (MRI) features for the…POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series
Objective: We present a case series of adult onset ataxia with variability in genetic mutations, yet common clinical phenotypic presentations that constitute the autosomal recessive…Peculiarities of Opsoclonus-Myoclonus Syndrome in India: A Systematic Review of reported cases
Objective: The aim of the study was to study the reported cases on opsoclonus-myoclonus syndrome in India and to analyze its peculiarities in comparison with…A Diagnostic Algorithm for Pediatric Early Onset Ataxia
Objective: To provide a clinical diagnostic algorithm for pediatric Early Onset Ataxia (EOA) that can contribute to an increased diagnostic yield. Background: In children, EOA…Recurrent Ataxia in a Young Lady with Hashimoto’s Thyroiditis
Objective: To present a case with recurrent attacks of ataxia in a young lady with Hashimoto's Thyroidits. Background: Hashimoto’s thyroiditis is now considered the most…
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