Seizures as an early symptom of autosomal dominant Alzheimer's disease

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...

Thrombocytopenia Inherited as an Autosomal Dominant Trait.

IN CONTRAST to the hereditary disorders of red cells and white cells, inherited disorders of the platelets appear to be rare. Among the few reports of hereditary thrombocytopenia,1'4 some lack essential history or supporting laboratory data. Those which present more convincing evidence display a remarkable variety cf clinical features and genetic patterns. Only the so-called Aldrich syndrome7 e...

Autosomal dominant multicore disease.

Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.

Blood pressure in early autosomal dominant polycystic kidney disease.

BACKGROUND Hypertension is common in autosomal dominant polycystic kidney disease (ADPKD) and is associated with increased total kidney volume, activation of the renin-angiotensin-aldosterone system, and progression of kidney disease. METHODS In this double-blind, placebo-controlled trial, we randomly assigned 558 hypertensive participants with ADPKD (15 to 49 years of age, with an estimated ...

Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease