Objective: To provide exploratory analyses of associations between levels of several sex hormones and cognitive performance in elderly women. Background: Sex steroid hormones are implicated in the cognitive processes of the adult brain. Comparing cognitive performance across or between conditions associated with different hormone levels, such as phases of the menstrual cycle, surgical menopause, and estrogen replacement therapy suggests conditions with higher levels of estrogen are associated with better verbal memory and possibly worse visuospatial ability. Method: The authors measured circulating sex hormone levels in 39 highly educated, nondemented, predominantly white elderly women. Levels were correlated with neuropsychological performance, controlling for age, education, frequency of prior testing, use of estrogen replacement, and depression. Results: High estradiol levels were associated with better delayed verbal memory and retrieval efficiency, whereas low levels were associated with better immediate and delayed visual memory. Levels of testosterone were related positively to verbal fluency. Levels of progesterone and androstenedione were unrelated to cognitive performance. Conclusions: Both estrogen and testosterone showed associations with cognitive performance. Estrogen may enhance, and depress, specific cognitive skills.

Associations between circulating sex steroid hormones and cognition in normal elderly women

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. It usually presents in the fifth or sixth decades with progressive dysphagia, eyelid ptosis, and proximal limb weakness. Unique intranuclear filament inclusions in skeletal muscle fibers are its morphological hallmark. Surgical correction of the ptosis and cricopharyngeal myotomy are the only therapies available. Autosomal dominant OPMD is caused by short (GCG)8-13 riplet-repeat expansions in the polyadenylation binding protein 2 (PABP2) gene, which is localized in chromosome 14q11. Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele. The GCG expansions cause lengthening of a predicted polyalanine tract in the protein. The expanded polyalanine domains may cause polyalanine nuclear toxicity by accumulating as nondegradable nuclear filaments.

Oculopharyngeal muscular dystrophy.

Publisher Summary
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is usually transmitted as an autosomal dominant trait and a rarer allelic autosomal recessive form has also been observed. Both forms are caused by short (GCN)11–17 expansions in the polyadenylate-binding protein nuclear 1 gene (PABPN1), localized on chromosome 14q11.2. OPMD usually manifests itself in the fifth or sixth decade by eyelid ptosis and dysphagia. Later, all extraocular and other voluntary muscles may become affected. In advanced stages of the disease, the eyelids become very thin and transparent. The forehead is permanently wrinkled, the eyebrows are raised, and the supraorbital ridges appear prominent. Initially, OPMD is often restricted to the levator palpebrae and pharyngeal muscles. As the disease progresses, there may be impairment of extraocular movements, occasionally associated with diplopia; nevertheless, complete external ophthalmoplegia is infrequent. Involvement of the orbicularis oculi may also occur. The intrinsic eye muscles are always spared and retinal function is not affected. The dysphagia is noticed first for solid foods and progresses insidiously.

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG)(6) is the normal repeat length. The prevalence of OPMD is greatest in patients of French-Canadian origin. It is not clear if expansion repeat length is a reliable test in other populations. In this study, we analysed the phenotypic and genotypic characteristics of 31 patients with OPMD in the UK. Ptosis was the first reported symptom in two-thirds of the patients, and half of the subjects studied had evidence of ophthalmoplegia. All but one family had a pathological expansion in the PABP2 gene, ranging from (GCG)(8) to (GCG)(13). In contrast to the French-Canadian population, (GCG)(10) was almost as common as (GCG)(9), evidence against a strong founder effect in the UK population. There was a weak association between repeat length and age of disease onset. Patients with longer repeat lengths, such as (GCG)(13), developed severe limb weakness early in the disease. We were unable to detect the (GCG)(7) polymorphism in over 200 normal controls, suggesting that the frequency of this expansion is lower than that found in the French-Canadian population. One family was negative for the expansion. Affected members presented with the classical features of OPMD, namely ptosis, dysphagia and cytoplasmic inclusions on muscle biopsy, although with some atypical features, such as early age of onset, high serum levels of creatine kinase and a profound ophthalmoplegia. This family is an example of a GCG expansion-negative oculopharyngeal syndrome requiring further genetic investigation. We conclude that PABP2 analysis is a reliable non-invasive diagnostic test for OPMD in the UK population.

/pdf/oculopharyngeal-muscular-dystrophy-phenotypic-and-genotypic-27suj3e0dj.pdf

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.

Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease of late onset associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs). O

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

Progressive Vagus-glossopharyngeal Paralysis With Ptosis. A Contribution To The Group Of Family, Diseases

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Progressive Vagus-glossopharyngeal Paralysis With Ptosis. A Contribution To The Group Of Family, Diseases