Literature DB >> 20719577

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy.

Pietro Guaraldi1, Vincenzo Donadio, Sabina Capellari, Manuela Contin, Maria Chiara Casadio, Pasquale Montagna, Rocco Liguori, Pietro Cortelli.   

Abstract

We evaluated the autonomic control of the cardiovascular system and the skin innervation of a patient from a new Italian family with a genetically proven diagnosis of adult-onset autosomal dominant leukodystrophy (ADLD) due to lamin B1 gene duplication. Cardiovascular reflexes and pharmacological assessment indicated a selective sympathetic failure, sparing cardiovagal function. Microneurography revealed absent sympathetic activity. The evaluation of autonomic innervation of skin annexes showed severely depleted and morphologically abnormal noradrenergic dopamine-β-hydroxylase (DβH) immunoreactive fibres with preserved cholinergic vasoactive intestinal polypeptide (VIP) immunoreactive fibres. This peculiar autonomic dysfunction may represent a hallmark for ADLD.
Copyright © 2010 Elsevier B.V. All rights reserved.

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Year:  2010        PMID： 20719577     DOI： 10.1016/j.autneu.2010.07.011

Source DB:  PubMed          Journal:  Auton Neurosci        ISSN： 1566-0702            Impact factor:   3.145


  13 in total

Review 1.  The clinical approach to autonomic failure in neurological disorders.

Authors:  Eduardo E Benarroch
Journal:  Nat Rev Neurol       Date:  2014-05-27       Impact factor: 42.937

2.  Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).

Authors:  Viviana Lo Martire; Sara Alvente; Stefano Bastianini; Chiara Berteotti; Cristiano Bombardi; Giovanna Calandra-Buonaura; Sabina Capellari; Gary Cohen; Pietro Cortelli; Laura Gasparini; Quasar Padiath; Alice Valli; Giovanna Zoccoli; Alessandro Silvani
Journal:  Exp Neurol       Date:  2017-12-17       Impact factor: 5.330

3.  A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia.

Authors:  Anna Bartoletti-Stella; Giacomo Chiaro; Giovanna Calandra-Buonaura; Manuela Contin; Cesa Scaglione; Giorgio Barletta; Annagrazia Cecere; Paolo Garagnani; Paolo Tieri; Alberto Ferrarini; Silvia Piras; Claudio Franceschi; Massimo Delledonne; Pietro Cortelli; Sabina Capellari
Journal:  J Neurol       Date:  2015-09-26       Impact factor: 4.849

Review 4.  Nuclear lamin functions and disease.

Authors:  Veronika Butin-Israeli; Stephen A Adam; Anne E Goldman; Robert D Goldman
Journal:  Trends Genet       Date:  2012-07-12       Impact factor: 11.639

5.  A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Authors:  Elisa Giorgio; Daniel Robyr; Malte Spielmann; Enza Ferrero; Eleonora Di Gregorio; Daniele Imperiale; Giovanna Vaula; Georgios Stamoulis; Federico Santoni; Cristiana Atzori; Laura Gasparini; Denise Ferrera; Claudio Canale; Michel Guipponi; Len A Pennacchio; Stylianos E Antonarakis; Alessandro Brussino; Alfredo Brusco
Journal:  Hum Mol Genet       Date:  2015-02-20       Impact factor: 6.150

6.  Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Authors:  Anna Bartoletti-Stella; Laura Gasparini; Caterina Giacomini; Patrizia Corrado; Rossana Terlizzi; Elisa Giorgio; Pamela Magini; Marco Seri; Agostino Baruzzi; Piero Parchi; Alfredo Brusco; Pietro Cortelli; Sabina Capellari
Journal:  Hum Mol Genet       Date:  2015-01-30       Impact factor: 6.150

7.  Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.

Authors:  Ana Potic; Aleksandra M Pavlovic; Graziella Uziel; Dusko Kozic; Jelena Ostojic; Attilio Rovelli; Nadezda Sternic; Mladen Bjelan; Elisa Sarto; Daniela Di Bella; Franco Taroni
Journal:  J Neurol       Date:  2013-05-17       Impact factor: 4.849

8.  Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Authors:  Elisa Giorgio; Harshvardhan Rolyan; Laura Kropp; Anish Baswanth Chakka; Svetlana Yatsenko; Eleonora Di Gregorio; Daniela Lacerenza; Giovanna Vaula; Flavia Talarico; Paola Mandich; Camilo Toro; Eleonore Eymard Pierre; Pierre Labauge; Sabina Capellari; Pietro Cortelli; Filippo Pinto Vairo; Diego Miguel; Danielle Stubbolo; Lourenco Charles Marques; William Gahl; Odile Boespflug-Tanguy; Atle Melberg; Sharon Hassin-Baer; Oren S Cohen; Rastislav Pjontek; Armin Grau; Thomas Klopstock; Brent Fogel; Inge Meijer; Guy Rouleau; Jean-Pierre L Bouchard; Madhavi Ganapathiraju; Adeline Vanderver; Niklas Dahl; Grace Hobson; Alfredo Brusco; Alessandro Brussino; Quasar Saleem Padiath
Journal:  Hum Mutat       Date:  2013-05-28       Impact factor: 4.878

Review 9.  Potential Interactions between the Autonomic Nervous System and Higher Level Functions in Neurological and Neuropsychiatric Conditions.

Authors:  Andrea Bassi; Marco Bozzali
Journal:  Front Neurol       Date:  2015-09-04       Impact factor: 4.003

10.  Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.

Authors:  Shu-Ting Lin; Mary Y Heng; Louis J Ptáček; Ying-Hui Fu
Journal:  Transl Neurodegener       Date:  2014-02-05       Impact factor: 8.014
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