TITLE

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

AUTHOR(S)
A Brussino
PUB. DATE
February 2009
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Feb2009, Vol. 80 Issue 2, p237
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
BACKGROUND AND AIM: Duplication of the lamin B1 gene (LMNB1) has recently been described in a rare form of autosomal dominant adult-onset leucoencephalopathy. The aim of the study was to evaluate the presence of LMNB1 gene defects in a series of eight patients with diffuse adult-onset hereditary leucoencephalopathy. METHODS: Clinical features of tested patients included a variable combination of pyramidal, cerebellar, cognitive and autonomic dysfunction. Neuroradiological data (MRI) showed symmetrical and diffuse white-matter lesions in six cases, and multifocal confluent lesions in two. LMNB1 full gene deletion/duplication and point mutations were searched using a TaqMan real-time PCR assay and direct sequencing of all coding exons. RESULTS: One patient carried a 140–190 kb duplication involving the entire LMNB1 gene, the AX748201 transcript and the 3' end of the MARCH3 gene. Clinical and neuroimaging data of this proband and an affected relative overlapped with the features already described in patients with LMNB1 duplication. Lamin B1 expression was found increased in lymphoblasts. No LMNB1 gene defect was identified in the remaining seven probands. CONCLUSIONS: LMNB1 gene duplication appears characteristic of a subset of adult-onset autosomal dominant leucoencephalopathies, sharing autonomic dysfunction at onset, diffuse T2-hyperintensity of supra- and infratentorial white matter, sparing of U-fibres and optic radiations. The variable phenotypes in the remaining cases lacking LMNB1 defects (five with autosomal dominant transmission) suggest that adult-onset leucoencephalopathies are genetically heterogeneous.
ACCESSION #
36359227

 

Related Articles

  • Asymptomatic leukemic-cell infiltration of the pancreas: US findings. Collado, Laura; Dardanelli, Esteban; Sierre, Sergio; Moguillansky, Silvia; Lipsich, José // Pediatric Radiology;Jun2011, Vol. 41 Issue 6, p779 

    Pancreatic infiltration of leukemic cells is a very rare manifestation at the onset of acute lymphoblastic leukemia (ALL) in childhood. Pancreatic enlargement in this situation is unusual and pancreatic involvement is often associated with biliary obstruction, cholestasis and pancreatitis. We...

  • Imaging of early modification in cardiomyopathy: the doxorubicin-induced model. Aissiou, Mohamed; Périé, Delphine; Cheriet, Farida; Dahdah, Nagib; Laverdière, Caroline; Curnier, Daniel // International Journal of Cardiovascular Imaging;Oct2013, Vol. 29 Issue 7, p1459 

    Doxorubicin chemotherapy is effective and widely used to treat acute lymphoblastic leukemia. However, its effectiveness is hampered by a wide spectrum of dose-dependent cardiotoxicity including both morphological and functional changes, affecting primarily the myocardium. Non-invasive imaging...

  • The benefits of networking. Goymer, Patrick // Nature Reviews Genetics;Jun2006, Vol. 7 Issue 6, p412 

    Discusses research being done on a hybrid vector for ligand-directed tumor targeting and molecular imaging. Reference to a study by A. Hajitou et al, published in the 2006 issue of "Cell"; Efforts of the author to distinguish a disease-susceptibility gene; Use of positional cloning in the study.

  • Modic changes and interleukin 1 gene locus polymorphisms in occupational cohort of middle-aged men. Karppinen, Jaro; Solovieva, Svetlana; Luoma, Katariina; Raininko, Raili; Leino-Arjas, Päivi; Riihimäki, Hilkka // European Spine Journal;Dec2009, Vol. 18 Issue 12, p1963 

    According to recent systematic reviews, Modic changes are associated with low-back pain. However, their pathophysiology remains largely unknown. A previous study of Northern Finnish males implicated that IL1A and MMP3 polymorphisms play a role in type II Modic changes. The purpose of the current...

  • Review of Deformable Curves-A Retro Analysis. Britto, A. Prabhu; Ravindran, G. // Information Technology Journal;2007, Vol. 6 Issue 1, p26 

    This study reviews Deformable curves (Active contours). The main strength of Deformable curves stems from their capability to provide to humans or higher processes, several interpretations of image data by supporting interactive mechanisms. Deformable curves offer a unique and powerful approach...

  • Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.  // Journal of Medical Case Reports;2011, Vol. 5 Issue 1, p1 

    The article presents the case of a Caucasian baby who died at five months of age during surgical correction of opitz trigonocephaly C syndrome (OTCS). OTCS is a heterogeneous genetic disorder which occurs sporadically. At 40 weeks post-conceptional age brain magnetic resonance imaging (MRI)...

  • Editorial. Kim, E. Edmund // Current Medical Imaging Reviews;2009, Vol. 5 Issue 2, p71 

    The article discusses various reports published within the issue including one on algorithms of the comprehensive pre- and post-therapeutic imaging for the locoregional treatment of metastatic colorectal cancer in the liver, another on neuroimaging patterns of the most common mitochondrial...

  • The basics of diagnostic imaging. Palmer, Philip E.S.; Holm, Thure // World Health;May/Jun95, Vol. 48 Issue 3, p12 

    Discusses diagnostic imaging. Need areas for it; Basic equipment; Principles to follow in choosing equipment; World Health Organization-specified X-ray units; Concern about the dangers of radiation. INSETS: The WHO Imaging System-Radiography (WHIS-RAD).;`I didn't think, I investigated'..

  • Erratum to: Interrater reliability of assessing levator ani deficiency with 360° 3D endovaginal ultrasound. Rostaminia, G.; Manonai, J.; Leclaire, E.; Omoumi, F.; Machiorlatti, M.; Quiroz, L.; Shobeiri, S. // International Urogynecology Journal;Apr2014, Vol. 25 Issue 4, p565 

    A correction to the article "Interrater reliability of assessing levator ani deficiency with 360° 3D endovaginal ultrasound" that was published in February 5, 2014 is presented.

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics