How does the PPP2R2B mutation alter neuronal cytoskeletal structure in SCA12
Objective: To study the effect of the PPP2R2B mutation on human induced pluripotent stem cell (iPSC) derived neurons in SCA12 patients. Background: SCA12 is an…Movement Disorders in De Novo Hyperglycemic Crisis: Insights from a Clinical Case Series
Objective: To investigate the clinical spectrum and implications of movement disorders (MD) in patients presenting with de novo hyperglycemic crisis (DNHC). Background: DNHC, characterized by…Progressive Myoclonic Ataxia: Neuroinflammation and Autoantibodies Against Inhibitory Synapses and Herpes Viruses
Objective: Our goal was to study the autoimmune mechanisms of neuroinflammation in progressive myoclonic ataxia. Background: There are 2 different Ramsay Hunt syndromes named after…Antibody-mediated movement disorders: a single-centre retrospective study
Objective: This study aims to evaluate the clinical spectrum of antibody-associated movement disorders from a single centre. Background: There is an increasing recognition of movement…Pulmonary Dysfunction in Friedreich’s Ataxia (FRDA)
Objective: We sought to characterize pulmonary function in FRDA and identify disease variables that may contribute to dysfunction. Background: FRDA is a neurodegenerative disease that causes…Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients
Objective: The aim of our study is to describe epidemiological, clinical and paraclinical features of the different autosomal recessive cerebellar ataxias (ARCA) identified in our…Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier
Objective: Our aim is to present a woman carrying a heterozygous GBA1 mutation who developed exclusively neurological symptoms in adulthood. Background: The diagnosis of Gaucher…Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…Seminoma resulting in rapidly progressive cerebellar syndrome with associated dual positive kelch-like protein 11 (KLHL11) IgG and leucine zipper 4 (LUZP4)–immunoglobulin G (IgG) antibodies.
Objective: We describe a case of retroperitoneal seminoma resulting in paraneoplastic progressive cerebellar syndrome secondary to KLHL11 and LUZP4 antibodies. Background: Testicular cancer covers a…Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report
Objective: To report the first case of a patient with GEMIN5 and GYG-1 genes mutations who presented with features of both SCA and myopathy. Background:…
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