Circadian rhythm alterations in an in vitro cellular model of Spinocerebellar ataxia type 17
Objective: To study in vitro expression of circadian rhythm genes (CLOCK, BMAL) in fibroblasts and neural cells of SCA17 patients. Background: Spinocerebellar Ataxia 17 (SCA17)…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…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…
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