0000000000222135
AUTHOR
Armin J. Grau
Nachuntersuchung 90 Tage nach Schlaganfall und transitorisch ischämischer Attacke im Qualitätssicherungsprojekt Rheinland-Pfalz
Zusammenfassung Hintergrund In Deutschland liefern Qualitätssicherungsprojekte zahlreiche Informationen zum akuten Schlaganfall, Daten aus Nachuntersuchungen liegen hingegen kaum vor. Ziel des Nachuntersuchungsprojekts war die Erhebung von Daten zu Lebenssituation, Rezidivereignissen, Medikation und Risikofaktoreneinstellung 3 Monate nach Schlaganfall oder TIA. Material und Methoden Im zweiten Halbjahr 2012 wurden alle im Qualitätssicherungsprojekt „Akuter Schlaganfall“ in Rheinland-Pfalz erfassten Patienten zu einer Nachuntersuchung nach 90 Tagen mittels eines Fragebogens eingeladen. Ergebnisse Von 8153 Patienten nahmen 3214 (39,4 %) an der Nachuntersuchung teil (Tod im Krankenhaus: n = 37…
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life. Hex A activity is usually absent in tissue and body fluids of these patients. Juvenile and adult Hex A deficiencies are less severe but rare variants with some residual Hex A activity. All these variants are most prevalent among Ashkenazi Jews. We describe a non-Jewish family in which four adult brothers and sisters had markedly reduced Hex A activities and onset of symptoms in the second decade o…
A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation
Abstract We report a novel heteroplasmic point mutation G8299A in the gene for mitochondrial tRNA Lys in a patient with progressive external ophthalmoplegia complicated by recurrent respiratory insufficiency. Biochemical analysis of respiratory chain complexes in muscle homogenate showed a combined complex I and IV deficiency. The transition does not represent a known neutral polymorphism and affects a position in the tRNA acceptor stem which is conserved in primates, leading to a destabilization of this functionally important domain. In vitro analysis of an essential maturation step of the tRNA transcript indicates the probable pathogenicity of this mutation. We hypothesize that there is a…