Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

2006 ◽  
Vol 141B (6) ◽  
pp. 608-614 ◽  
Author(s):  
Lena Marklund ◽  
Malin Melin ◽  
Atle Melberg ◽  
Vilmantas Giedraitis ◽  
Niklas Dahl
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Autonomic Symptoms

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Neurogenetics ◽  
2011 ◽  
Vol 12 (1) ◽  
pp. 65-72 ◽  
Author(s):  
Jens Schuster ◽  
Jimmy Sundblom ◽  
Ann-Charlotte Thuresson ◽  
Sharon Hassin-Baer ◽  
Thomas Klopstock ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Autonomic Symptoms ◽  
Lamin B1

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

2013 ◽  
Vol 260 (8) ◽  
pp. 2124-2129 ◽  
Author(s):  
Ana Potic ◽  
Aleksandra M. Pavlovic ◽  
Graziella Uziel ◽  
Dusko Kozic ◽  
Jelena Ostojic ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Adult Onset ◽  
Lamin B1 ◽  
Autonomic Dysfunctions ◽  
Phenotypic Variant

scholarly journals Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease

2019 ◽  
Vol 30 (11) ◽  
pp. 2103-2111 ◽  
Author(s):  
Ming Ma ◽  
Emilie Legué ◽  
Xin Tian ◽  
Stefan Somlo ◽  
Karel F. Liem
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Mouse Models ◽  
Hedgehog Signaling ◽  
Autosomal Dominant ◽  
Cyst Formation ◽  
Hedgehog Pathway ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

BackgroundPKD1 or PKD2, the two main causal genes for autosomal dominant polycystic kidney disease (ADPKD), encode the multipass transmembrane proteins polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Polycystins localize to the primary cilium, an organelle essential for cell signaling, including signal transduction of the Hedgehog pathway. Mutations in ciliary genes that build and maintain the cilium also cause renal cystic disease through unknown pathways. Although recent studies have found alterations in Hedgehog signaling in ADPKD-related models and tissues, the relationship between Hedgehog and polycystic kidney disease is not known.MethodsTo examine the potential role of cell-autonomous Hedgehog signaling in regulating kidney cyst formation in vivo in both early- and adult-onset mouse models of ADPKD, we used conditional inactivation of Pkd1 combined with conditional modulation of Hedgehog signaling components in renal epithelial cells, where mutations in Pkd1 initiate cyst formation. After increasing or decreasing levels of Hedgehog signaling in cells that underwent inactivation of Pkd1, we evaluated the effects of these genetic manipulations on quantitative parameters of polycystic kidney disease severity.ResultsWe found that in Pkd1 conditional mutant mouse kidneys, neither downregulation nor activation of the Hedgehog pathway in epithelial cells along the nephron significantly influenced the severity of the polycystic kidney phenotype in mouse models of developmental or adult-onset of ADPKD.ConclusionsThese data suggest that loss of Pkd1 function results in kidney cysts through pathways that are not affected by the activity of the Hedgehog pathway.

Cyclic mood disorder heralding adult-onset autosomal dominant leucodystrophy: A clinical masquerader

2014 ◽  
Vol 9 ◽  
pp. 22-25 ◽  
Author(s):  
Rajendra S. Jain ◽  
Swayam Prakash ◽  
B.S. Raghavendra ◽  
Kadam Nagpal ◽  
Rahul Handa
Keyword(s):  
Mood Disorder ◽  
Autosomal Dominant ◽  
Adult Onset

Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy

2013 ◽  
Vol 4 (4) ◽  
Author(s):  
Robert Laforce ◽  
Martin Roy ◽  
Maxime Descoteaux ◽  
Christian Berthelot ◽  
Jean-Pierre Bouchard
Keyword(s):  
White Matter ◽  
Mr Imaging ◽  
Autosomal Dominant ◽  
Hereditary Disease ◽  
Adult Onset ◽  
Neurocognitive Deficits ◽  
Cognitive Changes ◽  
Diffusion Mr ◽  
Lamin B1 ◽  
Diffusion Mr Imaging

AbstractAutosomal dominant adult-onset leukodystrophy (ADLD) is a progressive hereditary disease caused by duplication of Lamin B1 on chromosome 5q23.2. It is characterized by autonomic dysregulation, pyramidal signs, and cerebellar dysfunction. Since the first description in 1984, no authors have reported on its neurocognitive sequelae or attempted to quantify the severity of white matter changes. Herein we report a case of ADLD presenting with progressive cognitive changes leading to dementia and its associated white matter damage using diffusion MR imaging.

LMNB1-related adult-onset autosomal dominant leukodystrophy: Genetic and clinical studies of four Japanese families

2017 ◽  
Vol 381 ◽  
pp. 457
Author(s):  
N. Mezaki ◽  
T. Miura ◽  
K. Ogaki ◽  
M. Eriguchi ◽  
Y. Mizuno ◽  
...  
Keyword(s):  
Clinical Studies ◽  
Autosomal Dominant ◽  
Adult Onset
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