Canavan disease (CD) is a rare early-onset progressive spongiform leukodystrophy in brain of both humans and animals and is due to mutations in the gene encoding for aspartoacylase (ASPA), the enzyme that hydrolyzes N-acetyl-L-aspartate (NAA) [1]. In humans, the effects of CD are generally much more profound than in rodents exhibiting this same genetic lesion. The gene for ASPA is an autosomal ...

Dr Dermot Canavan BDentSc, MGDS (Edin), MS U Calif 69 Eglinton Road, Donnybrook, Dublin 4 Tel: 01 2694022 Fax: 01 2694004 Introduction Orofacial pain is an important issue for both patients and clinicians alike. Pain within the oral cavity is most frequently dental in origin (odontogenic) and extra-orally the most common source of pain is musculoskeletal (TMD). Once these conditions have been e...

Zusammenfassung In der Psychiatrie kommt es aufgrund fortschreitenden medizinischen Diagnostik zunehmend zur Vorstellung von Patienten mit genetischen Befunden, als Beispiele seien hier genannt und kurz beschrieben: die TLK2-Mutation (Tousled-Like-Kinase-2), Morbus Canavan, familiäre Creutzfeldt-Jakob-Krankheit (CJK), das Prader-Willi-Syndrom (Mikrodeletionssyndrom am Chromosom 15) Pätau-Syndro...

We investigate the interplay between government credibility and the visibility of policy-making, using the choice of a nominal anchor as an important example of how governments control visibility. We show that visibility has an important influence on how governments acquire credibility, and for this reason is a variable that governments use strategically. Policy-makers with stronger commitment ...

Canavan Disease (CD) is a leukodystrophy caused by homozygous null mutations in the gene encoding aspartoacylase (ASPA). ASPA-deficiency is characterized by severe psychomotor retardation, and excessive levels of the ASPA substrate N-acetylaspartate (NAA). ASPA is an oligodendrocyte marker and it is believed that CD has a central etiology. However, ASPA is also expressed by Schwann cells and AS...

TumourMarkers-Dr. A. R. Lyons. Improvement ofDiagnostic Precision of Treadmill Exercise Testing by Analysis of Blood Pressure Changes During Recovery-Drs. P. Morton, G. Murtagh, M. E. Scott, and Dr. K. Balnave by invitation. Animalcules-Dr. D. A. Canavan. Cushing's Syndrome-Professor D. A. D. Montgomery. A P. P. oma Syndrome-Professor K. D. Buchanan. Emergency Geriatric MedicalAdmissions-Profes...

PURPOSE To determine whether pontomedullary corticospinal tract involvement is a common and specific finding of adrenoleukodystrophy on MR images. METHODS MR images of 10 patients with biochemically proved adrenoleukodystrophy who were examined during the last 6 years were reviewed retrospectively to determine the frequency of corticospinal tract involvement in the medulla, pons, mesencephalo...