Anti-Ma2 Antibody Paraneoplastic Cerebellar Degeneration Associated with Renal Cell Carcinoma: A Case Report.
Objective: To highlight a unique case of Anti-Ma2 antibody paraneoplastic cerebellar degeneration (PCD) associated with renal cell carcinoma (RCC). Background: Paraneoplastic neurologic syndromes are a…COVID-19 encephalitis with anti-mGluR1 antibody-positive cerebellar ataxia
Objective: To describe a unique case of anti-metabotropic glutamate receptor 1 (mGluR1) antibody (Ab)-mediated cerebellar ataxia post-COVID-19 encephalitis. Background: Cerebellar syndrome is increasingly recognised in…Spinocerebellar ataxia 21 and phenotypic variability within a family
Objective: We describe four patients within a family who presented to our movement disorders centers for evaluation of various symptoms including unsteady gait, tremor, and…Japanese cases of Sez6l2 autoimmunity
Objective: We aimed to establish a method for measuring anti-Sez6l2 antibody and to clarify how many patients with anti-Sez6l2 antibody-associated cerebellar ataxia (CA) exist in…Clinical, imaging and genetic characteristics from an Indian ARSACS cohort
Objective: Provide insight into SACS mutations in India, by targeted gene panel of a suspected cohort. Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), caused…Volumetric analysis of the Corpus Callosum in Hereditary Cerebellar Ataxia
Objective: To analyze corpus callosum (CC) volumes on MRI in patients under follow-up for confirmed or suspected hereditary cerebellar ataxia Background: It is recognized that…CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…A bitter syndrome as a cause of refractory movement disorders
Objective: Submit a case of GLUT-1 deficiency for consideration in the differential diagnosis of movement disorders and refractory epilepsies because early treatment will prevent progressive…Gait ataxia and Autonomic dysfunction as early signs of Creutzfeldt-Jakob Disease: A Case Report
Objective: To highlight unusual early presenting symptoms of Sporadic Creutzfeldt-Jakob Disease (sCJD). Background: Prion diseases, a group of rare and fatal diseases caused by an…Two Different Clinical Presentations in SYNE1 Ataxia in Turkey
Objective: SYNE1 (Spectrin repeat-containing nuclear envelope protein 1) gene mutation, first diagnosed in French Canadians in 2007, is now reported from many regions around the…
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