Abstract
The clinical features and disease course of six patients from a family with autosomal dominant inheritance of presenile dementia and a hypokinetic syndrome are described. In the past, these patients have carried diagnoses of Pick's disease, Huntington's disease, Parkinson-dementia, and one patient was described as suffering from a 'peculiar type of presenile dementia' in a case report. In the two cases examined, the most distinctive neuropathological features were extensive globular deposits of periodic acid-Schiff plus diastase (PAS)-positive material, having tinctural properties of amyloid only to a limited degree, in the cerebellum and cerebral cortex. These globules stained positively with antibodies against prion protein. Southern blot of MspI-digested genomic DNA showed an abnormal band of approximately 950 bp in all three patients from which material was available. Direct sequencing of the abnormal allele revealed an insert consisting of eight extra 24-nucleotide repeats in the patients, which was absent in a healthy first degree relative who was considered well beyond the age of onset of symptoms in this family. The nucleotide sequence of the abnormal insert of 192 bp was different from that of a previously described in...Continue Reading
Citations
Sep 14, 2011·Archives of Neurology·Neeraj KumarDennis W Dickson
Feb 7, 2001·Annals of Neurology·K H SkworcH A Kretzschmar
Sep 13, 2005·Acta Neuropathologica·Ellen GelpiHerbert Budka
Oct 12, 2000·Eye·C J LueckM Zeidler
Oct 12, 2000·Eye·C J LueckM Zeidler
Jan 5, 2006·European Journal of Human Genetics : EJHG·Simon Mead
Jun 20, 1998·Neuropathology and Applied Neurobiology·C VitalP Gambetti
Feb 4, 2012·Brain : a Journal of Neurology·Raquel Sánchez-ValleEllen Gelpi
Apr 22, 2009·PLoS Pathogens·Daniel J StevensGlenn L Millhauser
Mar 4, 2010·Acta Neuropathologica·Casper JansenAnnemieke J M Rozemuller
Jan 14, 2009·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·M Jake PushieHans J Vogel
Oct 22, 2014·Viruses·Claudia Y Acevedo-Morantes, Holger Wille
Mar 24, 2011·Neuropathology and Applied Neurobiology·A VitalC Vital
Jun 25, 2013·Journal of Cellular Biochemistry·Thorsten Kuczius, Reinhard Kelsch
May 8, 2003·Clinics in Laboratory Medicine·Pierluigi GambettiShu G Chen
Nov 28, 2013·Prion·Martin PaucarPer Svenningsson
Jun 22, 2016·Molecular Neurobiology·Matthias SchmitzInga Zerr
Oct 13, 2010·Journal of Geriatric Psychiatry and Neurology·Khalilah Brown, James A Mastrianni
May 21, 2019·Journal of Neuropathology and Experimental Neurology·Aušrinė AreškevičiūtėEva Løbner Lund
Dec 3, 1999·Brain : a Journal of Neurology·J L LaplancheA Destée
Jan 7, 1999·Journal of Geriatric Psychiatry and Neurology·J A Mastrianni