Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)

Neurology
F GarzulyH Budka

Abstract

Amyloid deposits in leptomeningeal vessels, subarachnoid, subpial, and subependymal cerebrospinal regions, spinal ganglia, peripheral nerves, and some internal organs (predominantly heart and kidney) characterize a dominantly inherited disease in a Hungarian family. We found four definitely and three probably affected members in this family of 56 persons in four generations. Clinical features in all definitely diseased patients include disturbance of memory, psychomotor deceleration, ataxia, and hearing loss. In most patients there was temporary disorientation, migraine-like headache with vomiting, and tremor. Some patients had nystagmus, pyramidal signs with spastic paraparesis, hallucinations, urinary retention, and obstipation. Single patients had facial tics and sleep disorders. Progressive visual disturbance and clinically manifest polyneuropathy were absent. CSF protein was markedly elevated in all patients. CT showed characteristic symmetric calcification along the sylvian fissure; MRI after contrast administration showed prominent enhancement at the surface of the sylvian fissures, brainstem, and cerebellum. Autopsy data was available in three definitely affected patients and in one unaffected family member. Immunohisto...Continue Reading

Citations

Nov 10, 2009·Cellular and Molecular Life Sciences : CMLS·A RostagnoJorge Ghiso
Jul 28, 2012·Journal of Molecular Neuroscience : MN·Pawel LisowskiArtur H Swiergiel
Jan 6, 2000·Progress in Neuro-psychopharmacology & Biological Psychiatry·T HarkanyC Nyakas
Apr 23, 2002·The British Journal of Dermatology·Tibor HarkanyS Virágh
Oct 28, 2003·Circulation Journal : Official Journal of the Japanese Circulation Society·Takuroh ImamuraTanenao Eto
Mar 29, 2008·Acta Neuropathologica·Dietmar Rudolf ThalEstifanos Ghebremedhin
Oct 20, 2007·AJNR. American Journal of Neuroradiology·J LinnM Wiesmann
Mar 9, 2005·European Neurology·Alexander LossosHanna Rosenmann
Nov 10, 2000·Current Opinion in Neurology·V Planté-Bordeneuve, G Said
Feb 21, 2016·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Matthew B BeversPatricia L Musolino
Jul 1, 2003·Expert Review of Neurotherapeutics·Shu-Ichi IkedaYasuhiko Hashikura
May 13, 2006·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Yuko ShimizuMakoto Iwata
Jun 10, 2004·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Tomofumi YoshinagaShu-ichi Ikeda
Jan 10, 2006·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Shigeaki MitsuhashiShu-Ichi Ikeda
Nov 5, 2004·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Takashi OideShu-Ichi Ikeda
Dec 29, 2000·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·M YazakS I Ikeda
May 14, 2010·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Merrill D BensonBrett P Monia
Jun 6, 2009·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Kelly SchweitzerEdward Alport
Jun 27, 2008·Journal of the Neurological Sciences·Kazuma NakagawaSteven M Greenberg
Mar 8, 2007·Journal of the Neurological Sciences·Luís F MaiaHoward H Feldman
Mar 15, 2006·Journal of the Neurological Sciences·Anna MazzeoNicola De Stefano
Dec 27, 2005·Journal of Molecular Biology·Karin SörgjerdPer Hammarström
Oct 1, 2013·Biochimica Et Biophysica Acta·Roberta CascellaCristina Cecchi
Jun 10, 2004·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Lawreen Heller ConnorsMerrill D Benson
Apr 12, 2005·Cell·Yoshiki SekijimaJeffery W Kelly
May 12, 2009·Journal of the Neurological Sciences·A BersanoL Candelise
May 12, 2016·Journal of Internal Medicine·M AnkarcronaJ W Kelly
May 27, 2009·Journal of the Neurological Sciences·Gérard Said, Violaine Planté-Bordeneuve
Sep 11, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Sophie BartierEmilie Béquignon
Mar 10, 1999·Brain : a Journal of Neurology·M BrettJ A Morgan-Hughes
Oct 28, 2017·Alzheimer Disease and Associated Disorders·Gaël Nicolas, Olivier Martinaud
Feb 28, 2019·Acta Neuropathologica Communications·Yingjian YouCristian A Lasagna-Reeves
May 10, 2017·Cellular and Molecular Life Sciences : CMLS·Seyyed Abolghasem GhadamiFabrizio Chiti
Dec 7, 2017·Journal of Neurology·Ana Martins da SilvaTeresa Coelho
Mar 22, 2003·Laboratory Investigation; a Journal of Technical Methods and Pathology·Yoshiki SekijimaJeffery W Kelly
Oct 10, 2003·Journal of Neuropathology and Experimental Neurology·Tamas ReveszJanice L Holton

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