Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Last update 08 May 2025

Basic Info

Synonyms

EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY, EPM5, FORMERLY, SANDO

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Introduction

This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes.

Clinical Trials associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

NCT05554835

/ RecruitingNot ApplicableIIT

Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders

The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

Start Date01 Feb 2009

Sponsor / Collaborator

University Hospital of Ludwig-Maximilians-University

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100 Clinical Results associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

100 Translational Medicine associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

0 Patents (Medical) associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Literatures (Medical) associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

01 May 2024·Journal Français d'Ophtalmologie

Alterations of lacrimal sac vasculature in lacrimal disorders: Chromo endoscopic assessment with changes in effective spectral response

Article

Author: Ali, M J ; Ali, M.J.

PURPOSETo study the structural and dynamic alterations in the lacrimal sac vasculature of patients with congenital, primary, and secondary acquired nasolacrimal duct obstructions (CNLDO, PANDO, SANDO) and patients with acute dacryocystitis (AD) and failed dacryocystorhinostomy (DCR).METHODSA prospective study was performed on 65 consecutive lacrimal sacs following their complete exposure during endoscopic dacryocystorhinostomy. High magnification chromo endoscopy and changes in effective spectral response was achieved using the Storz professional image enhancement system (SPIES®). Structural characteristics studied include vascular arrangement, superficial and deep vessels, vessel calibers on cut section, abnormal branching, localized and generalized dilatations and pathologies like varices. Flow characteristics in different caliber vessels and their alterations were assessed in Spectra A mode of SPIES®.RESULTSDistinct vascular alterations were noted in several lacrimal disorders. Vascular dilatations differed between the fundus and the body segments of the lacrimal sac, except in cases of traumatic SANDO and prior failed DCRs. 23% (7/30) of PANDO sacs showed peri sac varices and severe tortuosity. The flow in the dilated vessels was either very slow or showed intermittent backflow. Moderate dilatation of peri sac venous plexus with distinct surface linear vessels was noted in CNLDO. The cut surface of the sac wall and luminal surface differentially demonstrated several vascular patterns like speckled, scattered, branched loops, and skip areas in various diseased states.CONCLUSIONThe present study found distinct alterations of lacrimal sac vasculature in several lacrimal drainage disorders and provides impetus to the vascular theory for pathogenesis of PANDO.

13 Apr 2023·Biomedicines

The Y831C Mutation of the POLG Gene in Dementia.

Article

Author: Santa Paola, Sandro ; Lanza, Giuseppe ; Lo Giudice, Mariangela ; Ferri, Raffaele ; Cantone, Mariagiovanna ; Borgione, Eugenia ; Giuliano, Marika ; Scuderi, Carmela

BACKGROUNDThe POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical presentations, such as dysarthria and ophthalmoplegia (SANDO), progressive external ophthalmoplegia (PEO), spinocerebellar ataxia and epilepsy (SCAE), Alpers syndrome, and sensory ataxic neuropathy. Recent evidence has also indicated that POLG mutations may be involved in some neurodegenerative disorders, although systematic screening is currently lacking.METHODSTo investigate the frequency of POLG gene mutations in neurodegenerative disorders, we screened a group of 33 patients affected by neurodegenerative diseases, including Parkinson's disease, some atypical parkinsonisms, and dementia of different types.RESULTSMutational analysis revealed the presence of the heterozygous Y831C mutation in two patients, one with frontotemporal dementia and one with Lewy body dementia. The allele frequency of this mutation reported by the 1000 Genomes Project in the healthy population is 0.22%, while in our group of patients, it was 3.03%, thus showing a statistically significant difference between the two groups.CONCLUSIONSOur results may expand the genotype-phenotype spectrum associated with mutations in the POLG gene and strengthen the hypothesis of a pathogenic role of the Y831C mutation in neurodegeneration.

01 Jan 2023·Mitochondrial Diseases

Progressive external ophthalmoplegia

Review

Author: Hirano, Michio ; Pitceathly, Robert D S

Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO). Intriguingly, many of those nuclear DNA pathogenic variants impair maintenance of the mitochondrial genome causing downstream mtDNA multiple deletions and depletion. In addition, numerous genetic causes of nonmitochondrial PEO have been identified.

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Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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