Identification of modifier genes related to G proteins pathways on the motor capacity of a Drosophila melanogaster model of Friedreich’s ataxia
Objective: To identify genetic modifiers related to G-protein coupled receptor signaling pathways, which might improve a frataxin-depleted phenotype in a Drosophila model of Friedreich's ataxia.…A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia
Objective: To identify and characterize the genetic cause of common, idiopathic, cerebellar ataxia. Background: Late-onset ataxia is a common reason for neurological consultation, but its…Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Objective: Identify by exome sequencing (ES) the underlying etiology of spastic ataxia and pseudo eye-of-the-tiger sign (EOT) in 4 siblings. Background: The EOT is a…A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent
Objective: To characterize the clinical and radiological phenotype in patients with AT and correlate with the genetic analysis. Background: AT is a rare autosomal recessive…Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…Two heterozygous SNYE1 mutations presenting as spasmodic adductor dysphonia, task-specific jaw dystonia, generalized dystonia, and ataxia in a Jamaican man
Objective: Expanding the phenotype of SYNE1 mutations to include dystonia with ataxia. Background: In 2007 mutations in the SYNE1 gene were found to cause a…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…A homozygous pentanucleotide repeat expansion in cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To identify the genetic cause in patients with CANVAS recruited at the University Hospital of Schleswig-Holstein, Campus Lübeck. Background: CANVAS is a late-onset neurological…The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report
Objective: To investigate the clinical features of Parkinson's disease caused by PLA2G6 gene mutation． Background: Early-onset Parkinsonism is a group of syndromes characterized by Parkinson's disease…Phosphodiesterase inhibitors as a treatment for Friedreich’s ataxia
Objective: To evaluate the effect of phosphodiesterase inhibitors, as potential treatment for Friedreich’s ataxia, in a Drosophila melanogaster model of the disease. Background: Friedreich’s ataxia…
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