Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.

Neuromuscular disorders : NMD - 1 Jul 2020

Parada-Garza Juan Didier, López-Valencia German, Miranda-García Luis Adrián, Pérez-García Guillermo, Ruiz-Sandoval José Luis

Abstract excerpt

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia associated with mutations in POLG1. We report a 38-year-old woman with a history of progressive gait instability and bilateral ptosis. Neurological examination found ataxia, ophthalmoplegia, and dysarthria. MRI showed bilateral thalamic and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA, Mitochondrial
Share to DNA Polymerase gamma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mitochondrial Diseases

Share to Mutation

Share to Ophthalmoplegia, Chronic Progressive External

Source

Identifiers

PMID: 32600829
DOI: 10.1016/j.nmd.2020.04.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.PMID 32600829Read ↗

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

Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.Semantic proximity Read ↗

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

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

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

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

Phenotypic Variability of Polymerase Gamma–Associated AtaxiaSemantic proximity Read ↗

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.Semantic proximity Read ↗

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.Semantic proximity Read ↗

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

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

A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.