Early-onset Ataxia With Progressive External Ophthalmoplegia Associated With POLG Mutation: Autosomal Recessive Mitochondrial Ataxic Syndrome or SANDO?

10:21 EDT 29th May 2015 | BioPortfolio

Summary of "Early-onset Ataxia With Progressive External Ophthalmoplegia Associated With POLG Mutation: Autosomal Recessive Mitochondrial Ataxic Syndrome or SANDO?"

Autosomal recessive ataxias caused by mutations of the polymerase γ (POLG) gene make an important group of progressive ataxias accompanied by a diverse spectrum of neurological disorders. Because the clinical picture can be quite miscellaneous, it is challenging to assort patients to any of the currently described syndromes; therefore, to provide such a patient with a conclusive diagnosis can be challenging for the neurologist. A typical magnetic resonance imaging finding is probably the most useful landmark in the diagnostic process, which will steer the clinician toward POLG gene testing. To illustrate this, we present a case of progressive ataxia caused by A467T and W748S mutations of POLG gene, who presented with overlapping symptoms of autosomal recessive mitochondrial ataxic syndrome and SANDO, as well as choreoathetotic movements and dysphonia. After lengthy investigations, magnetic resonance imaging showed T2 and FLAIR hyperintensities in the thalamus, inferior olives, and cerebellum, which led us to the analysis of POLG mutations.


*Department of Neurology, School of Medicine, University of Zagreb †University Department of Neurology, Zagreb University Hospital Center, Referral Center for Demyelinating Diseases of the Central Nervous System ‡University Department of Radiology, Za

Journal Details

This article was published in the following journal.

Name: The neurologist
ISSN: 1074-7931
Pages: 287-9


PubMed Articles [12687 Associated PubMed Articles listed on BioPortfolio]

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias.

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG rep...

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

In a large family of Algerian origin, we aimed to identify the genetic mutation segregating with simultaneous presence of adult-onset, paucisymptomatic, slowly progressive, cerebellar ataxia in 7 adul...

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently asso...

Clinical variability in ataxia-telangiectasia.

Ataxia-telangiectasia (A-T) is an autosomal recessive inherited disease characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, choreoathetosis and telangiectasias of the c...

Selected Case From the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial Myopathy Presenting With Chronic Progressive External Ophthalmoplegia (CPEO): A Case Report.

A 43-year-old female patient diagnosed with chronic progressive external ophthalmoplegia (CPEO) because of mitochondrial myopathy documented by muscle biopsy is presented. The chief complaints were re...

Clinical Trials [3090 Associated Clinical Trials listed on BioPortfolio]

Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias

Congenital ataxias (CA) are rare, non progressive diseases, characterized by psychomotor retardation, hypotonia followed by ataxia. The presence of the "molar tooth" on MRI allowed to defi...

Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease

Patients (male or female) with either documented genetically confirmed diagnosis of inherited mitochondrial diseases, who are ≥ 2 years old and < 18 years, and meet other specified inclu...

Interferon Gamma-1b in Friedreich Ataxia (FRDA)

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g)...

Baclofen Treatment of Ataxia Telangiectasia

This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems ca...

Coenzyme Q10 in Adult-Onset Ataxia

This is a Physician-sponsored pilot study, whose purpose it is determine if high-dose oral Coenzyme Q10 (CoQ10) is safe and tolerated in patients with sporadic forms of adult-onset spinoce...

Medical and Biotech [MESH] Definitions

A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)

A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)

A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

Search BioPortfolio:

Relevant Topics

Latest News Clinical Trials Research Drugs Reports Corporate
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Neurology - Central Nervous System (CNS)
Latest News Clinical Trials Research Drugs Reports Corporate
Neurology is the branch of medicine concerned with nerves; both the central nervous system and the peripheral nervous system. This includes strokes and disorders affecting the brain aswell as spinal cord damage and peripheral neuropathies.The complexity ...


Searches Linking to this Article