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…Superficial siderosis; a case review
Objective: To highlight an often overlooked cause of ataxia with hearing impairment. Background: Superficial siderosis (SS) of the nervous system is caused by chronic hemosiderin…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Volatile solvent abuse and Cerebellar ataxia: A case series
Objective: Delineation of clinical and radiological features of cerebellar ataxia from volatile solvent abuse. Background: Volatile solvents like glues, correction fluid, acrylic paints, varnishes, lacquers…Friedreich’s ataxia: A descriptive study of a Tunisian cohort
Objective: we aim to describe the clinical, radiological and electrophysiological features of Friedreich's ataxia (FA) in our population. Background: FA is the most common autosomal…Progressive cerebellar ataxia in primary Sjögren’s syndrome: a case report
Objective: To present a rare case of gradually progressing cerebellar ataxia due to systemic autoimmune disease. Background: Primary Sjögren’s syndrome (pSS) is an autoimmune disease,…Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…
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