Lissencephaly 1

Common Name(s)

Lissencephaly 1

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations ({16:Pilz et al., 1999}, summary by {12:Kato and Dobyns, 2003}). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology ({1:Bordarier et al., 1986}). With this technical advantage, a number of lissencephaly syndromes have been distinguished. Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. ({14:Lo Nigro et al., 1997}). {12:Kato and Dobyns (2003)} presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of Lissencephaly Lissencephaly is a genetically heterogeneous disorder. See also LIS2 ({257320}), caused by mutation in the RELN gene ({600514}) on chromosome 7q22; LIS3 ({611603}), caused by mutation in the TUBA1A gene ({602529}) on chromosome 12q13; LIS4 ({614019}), caused by mutation in the NDE1 gene ({609449}) on chromosome 16p13; LIS5 ({615191}), caused by mutation in the LAMB1 gene ({150240}) on chromosome 7q; LIS6 ({616212}), caused by mutation in the KATNB1 gene ({602703}) on chromosome 16q21; LIS7 ({616342}), caused by mutation in the CDK5 gene ({123831}) on chromosome 7q36; and LIS8 ({617255}), caused by mutation in the TMTC3 gene ({617218}) on chromosome 12q21. X-linked forms include LISX1 ({300067}), caused by mutation in the DCX gene ({300121}) on chromosome Xq22.3-q23, and LISX2 ({300215}), caused by mutation in the ARX gene ({300382}) on chromosome Xp22.3-p21.1. See also Miller-Dieker lissencephaly syndrome (MDLS; {247200}), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE ({605066}) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lissencephaly 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lissencephaly 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lissencephaly 1" returned 7 free, full-text research articles on human participants. First 3 results:

Differential effects of the dynein-regulatory factor Lissencephaly-1 on processive dynein-dynactin motility.
 

Author(s): Pedro A Gutierrez, Bryce E Ackermann, Michael Vershinin, Richard J McKenney

Journal: J. Biol. Chem.. 2017 07;292(29):12245-12255.

 

Cytoplasmic dynein is the primary minus-end-directed microtubule motor protein in animal cells, performing a wide range of motile activities, including transport of vesicular cargos, mRNAs, viruses, and proteins. Lissencephaly-1 (LIS1) is a highly conserved dynein-regulatory factor ...

Last Updated: 31 Dec 1969

Go To URL
Lissencephaly-1 is a context-dependent regulator of the human dynein complex.
 

Author(s): Janina Baumbach, Andal Murthy, Mark A McClintock, Carly I Dix, Ruta Zalyte, Ha Thi Hoang, Simon L Bullock

Journal:

 

The cytoplasmic dynein-1 (dynein) motor plays a central role in microtubule organisation and cargo transport. These functions are spatially regulated by association of dynein and its accessory complex dynactin with dynamic microtubule plus ends. Here, we elucidate in vitro the roles ...

Last Updated: 31 Dec 1969

Go To URL
Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly.
 

Author(s): Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Yu-Peng Liu, Schu-Rern Chern, Li-Feng Chen, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2011 Dec;50(4):554-7.

 

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lissencephaly 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

Go to URL