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…Think of Gluten Ataxia:A rare but potentially reversible cause of progressive neurological disorder
Objective: To explore an unusual cause of ataxia in a patient with known Celiac disease. Background: Celiac disease is the established but not the only…Paraneoplastic Cerebellar Degeneration As Initial Symptom Of Renal Cell Carcinoma
Objective: To describe a case of paraneoplastic cerebellar degeneration in a patient with renal cell carcinoma. Background: Paraneoplastic cerebellar degeneration belongs to a group of…Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency
Objective: To present two rare cases of RTD type 2 with co-existing AMP deaminase deficiency. Background: RTD, formerly known as Brown-Vialetto-Van Laere syndrome, is a…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…Evidence based management of Normal Pressure Hydrocephalus: Lessons and future directions
Objective: To present the methodology and management tree of patients referred to the Henry Ford NPH conference for an evaluation from 2003 to 2017. Background:…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…
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