Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12397
Abstract: Autosomal-dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase c (POLG), which results in heterogeneous clinical phenotypes… read more here.
Keywords: progressive external; ophthalmoplegia; ophthalmoplegia type; dominant progressive ... See more keywords
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8409-z
Abstract: The sporadic occurrence of a mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), Kearns–Sayre syndrome (KSS, MIM 530000), and in infancy, Pearson syndrome (MIM 557000) may suggest the presence of a single, sporadic mitochondrial DNA… read more here.
Keywords: chronic progressive; ophthalmoplegia; dna; mtdna ... See more keywords
Complete progressive ophthalmoplegia and numb chin syndrome, the first clinical manifestations of a lethal abdominal Burkitt lymphoma.
Sign Up to like & getrecommendations! Published in 2017 at "Neurologia i neurochirurgia polska"
DOI: 10.1016/j.pjnns.2017.08.004
Abstract: A 57-year-old patient was admitted to the Neurology Clinic for hypoesthesia, intense pain in the right chin and double vision. During the hospitalization, the patient developed progressive complete bilateral ophthalmoplegia and numbness of both sides… read more here.
Keywords: ophthalmoplegia; numb chin; progressive ophthalmoplegia; chin syndrome ... See more keywords
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia
Sign Up to like & getrecommendations! Published in 2018 at "Orbit"
DOI: 10.1080/01676830.2017.1423346
Abstract: ABSTRACT Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the… read more here.
Keywords: chronic progressive; progressive external; intracranial hypotension; ophthalmoplegia ... See more keywords
Slowly Progressive Ophthalmoplegia as a Presenting Symptom of Myotonic Dystrophy Type 1.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuro-Ophthalmology"
DOI: 10.1097/wno.0000000000001132
Abstract: M yotonic dystrophy Type 1 (DM1) is an autosomal dominant disorder caused by expansion of cytosine– thymine–guanine (CTG) triplet repeats within the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19 (1). Because DM1 affects… read more here.
Keywords: ophthalmoplegia; presenting symptom; progressive ophthalmoplegia; dystrophy type ... See more keywords
Bickerstaff Brainstem Encephalitis with Isolated Acute Bilateral Ophthalmoplegia: An Unusual Presentation
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_823_20
Abstract: Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 4 ¦ July-August 2021 624 Dear Editor, Bickers taff bra ins tem encephal i t i s (BBE) is an immune-mediated, rare form of… read more here.
Keywords: encephalitis; acute bilateral; bickerstaff brainstem; ophthalmoplegia ... See more keywords