https://www.amjmed.com/article/0002-9343(67)90015-0/pdf

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome: I. Clinical, pathologic and biochemical characteristics☆☆☆

Anatomic Changes in Involutional Blepharoptosis

Oropharyngeal dysphagia and oculopharyngeal muscular dystrophy.

Members of a large French-Canadian family were found to have the cardinal features of the oculopharyngeal syndrome, including ptosis and dysphagia, which usually began late in life and progressed slowly. Weakness of facial, extraocular, and limb-girdle muscles occurred in a proportion of affected individuals. Mechanical and cineradiographic studies of swallowing showed that the function of the striated muscle portions of the hypopharynx and upper esophagus was impaired. Electromyography, serum muscle enzyme determinations, and muscle biopsy specimens offered suggestive, but not definitive, evidence that the disorder was primarily myopathic. Generic analysis revealed that the disorder was transmitted in straightforward dominant fashion. All of the numerous French-Canadian family groups with the oculopharyngeal syndrome are now known to be related to one another, and presumably share the same underlying biochemical defect, which has yet to be elucidated.

https://jamanetwork.com/HttpHandlers/ArticlePdfHandler.ashx?journal=jama&articleId=338424&pdfFileName=jama_203_12_001.pdf

The Oculopharyngeal Syndrome

Background Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant muscle disease with a worldwide distribution. Recent findings reveal the genetic basis of this disease to be mutations in the polyA binding–protein 2 ( PABP2 ) gene that involve short expansions of the GCG trinucleotide repeat encoding a polyalanine tract. The underlying mechanism causing the triplet-expansion mutation in PABP2 remains to be elucidated, although the DNA slippage model is thought to be a plausible explanation of that. Methods and Results We analyzed PABP2 using polymerase chain reaction analysis and DNA sequencing in Japanese patients with pathologically confirmed OPMD, and found mutated (GCG) 6 GCA(GCG) 3 (GCA) 3 GCG and (GCG) 6 (GCA) 3 (GCG) 2 (GCA) 3 GCG alleles instead of the normal (GCG) 6 (GCA) 3 GCG allele. These mutated alleles could be explained by the insertions or duplications of (GCG) 3 GCA and (GCG) 2 (GCA) 3 , respectively, but not by the simple expansion of GCG repeats. The clinical features of our patients were compatible with those of other Japanese patients carrying PABP2 that encodes a polyalanine tract of the same length, but were not compatible with those of Italian patients. Conclusions The mutated alleles identified in our Japanese patients with OPMD were most likely due to duplications of (GCG) 3 GCA and (GCG) 2 (GCA) 3 but not simple expansions of the GCG repeats. Therefore, unequal crossing-over of 2 PABP2 alleles, rather than DNA slippage, is probably the causative mechanism of OPMD mutations. All mutations that have been reported in patients with OPMD so far can be explained with the mechanism of unequal crossing-over. On the other hand, comparison of the clinical features of our patients with those of other patients in previous reports suggests that specific clinical features cannot be attributed to the length of the polyalanine tract per se.

Unequal Crossing-over in Unique PABP2 Mutations in Japanese Patients: A Possible Cause of Oculopharyngeal Muscular Dystrophy

IN 1915 Professor E. W. Taylor1 called attention to an unusual familial form of dysphagia with ptosis of the eyelids. These symptoms were slowly progressive, leading eventually to death by starvati...

Oculopharyngeal muscular dystrophy.

Handle everyday research tasks with reliable, citation-backed results

Your personal Research Agent to handle research tasks with citation-backed results

Popular Tasks used by Researchers

How can I help with your research?

Meet SciSpace

Get more enhanced response by uploading the PDFs you want me to reference.

No relevant PDFs in your library

SciSpace is the AI research assistant for academics. Run systematic literature reviews on 280M+ papers, and write papers with cited sources. Trusted by 1M+ students, PhDs & researchers.

SciSpace | AI for Research

Analyze PDFs

Code & Manuscripts

Funding & Grants

Literature & Patents

Medical & Clinical Data

Systematic Review

Visualize & Present

Web & Data

Build a Google Scholar-like website for your research.

Build a website

Create charts and images for your research

Create a Chart

Write a paper for submission to a journal

Draft a manuscript

Patent Search

Design eye-catching scientific posters in minutes.

Scientific Poster Generation

Systematic Literature Review

One task is running at the moment. Your messages will be shown right after.

Drag and drop or click here to browse

Loved by <highlight>1 million+</highlight> researchers

Extract a list of specific topics and their sources from unstructured text

Topics

Compare and analyze relevant papers that matches with your search

Papers

Get insights from PDFs and bookmarked papers from your library

My library

Recent searches

Try searching for:

Catch AI-generated content in scholarly and non-scholarly content

{ai} Detector

Ai Writer

Get PDF Summaries, highlighted text explanations 

Chat with PDF

Effortlessly create in-text citations and bibliographies in APA and 2,500 other formats

Citation generator

Get explanations, summaries, and answers on academic papers

Ease up your research workflow with {scispace}'s cohort of exciting AI tools

Elevate your academic writing skills and convey your ideas the way you want

Paraphraser

Explore our range of reading and writing tools

Your file is being prepared and should be ready in a few minutes. If it's a large file, it might take a bit longer. You can close this window, and we'll email you the file when it's done.

You have reached a maximum limit of <strong>{limit}</strong> columns in the table. Remove at least <strong>1</strong> column to add or create another one.

Embreel

Author Tools

Chat about Author

Papers

Oculopharyngeal muscular dystrophy.