Article

Phenotypic Variability of Polymerase Gamma–Associated Ataxia

2023-09-22

Abstract excerpt

<h4>Objective: </h4> Mutations in the mitochondrial DNA polymerase gamma ( PO LG) are causing a wide spectrum of overlapping disorders, including ataxia as one of the most common presentations. Our study was to determine the clinical, electrophysiological, neuroimaging, and genetic characteristics of the POLG-associated ataxias (POLG-A). <h4>Methods: </h4>: We assessed 3 adult ataxia patients with biallelic POLG...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ea8481a0-0386-50cb-8379-352434bc17ed
DOI: 10.21203/rs.3.rs-3340280/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Phenotypic Variability of Polymerase Gamma–Associated AtaxiaDOI 10.21203/rs.3.rs-3340280/v1Read

Characterizing POLG ataxia: clinics, electrophysiology and imaging.Semantic proximity Read

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.Semantic proximity Read

Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.Semantic proximity Read

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?Semantic proximity Read

POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.Semantic proximity Read

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.Semantic proximity Read

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.Semantic proximity Read

[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].Semantic proximity Read

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.Semantic proximity Read

Clinical and molecular features of POLG-related mitochondrial disease.Semantic proximity Read

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.Semantic proximity Read

Clinical and molecular spectrum associated with Polymerase-γ related disorders.Semantic proximity Read