Role of cell adhesions in neural development: Difference between revisions

Revision as of 20:09, 10 February 2015

Revision as of 19:37, 21 February 2015

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==Relevant neurological conditions==

Several debilitating diseases are brought about from errors in neural development due in part to problems involving neural cell adhesions and adhesion mechanisms.

*CRASH syndrome (or L1 syndrome) is brought about by a mutation in the L1CAM gene on the x-[[chromosome]], resulting in a malfunctioning L1CAM protein. CRASH (acronym) syndrome include the conditions:<ref name="pmid8556302">{{cite journal |author=Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ |title=CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1 |journal=European Journal of Human Genetics |volume=3 |issue=5 |pages=273–84 |year=1995 |pmid=8556302 }}</ref><ref name="pmid7562969">{{cite journal |author=Ruiz JC, Cuppens H, Legius E, et al.|title=Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS |journal=Journal of medical genetics |volume=32 |issue=7 |pages=549–52 |date=July 1995 |pmid=7562969 |pmc=1050549 |doi= 10.1136/jmg.32.7.549|url=}}</ref>

{|type= class="wikitable"

{{Table

|title=+ Summary of CRASH conditions

|type=class="wikitable"

|hdrs=! Year!!Comments

|title=Summary of CRASH conditions

|-

|hdrs=Year!!Comments

|row1= Corpus callosum [[hypoplasia]] {{!!}}|| Incomplete corpus-callosum development

|-

|row2= Retardation {{!!}}|| Impaired cognitive function

|row3=Adducted thumbs {{!!}} Abnormal thumb development

|-

|row4=Spastic [[paraplegia]] {{!!}} Stiffening and contraction in the lower limbs

|row3= Adducted thumbs {{!!}}|| Abnormal thumb development

|row5=[[Hydrocephalus]] {{!!}} Abnormal accumulations of [[Cerebrospinal fluid]] within skull}}

|-

|row4= Spastic [[paraplegia]] {{!!}}|| Stiffening and contraction in the lower limbs

|-

|row5= [[Hydrocephalus]] {{!!}}|| Abnormal accumulations of [[Cerebrospinal fluid]] within skull}}

|}

*Additionally, studies have shown that alterations in the expression of the protein thy-1 may be partially responsible for the abnormal neuronal outgrowth observed in [[Alzheimer's]] patients. It was found that abnormal neural outgrowth and thy-1 presence were correlated spatially, though mechanistic work is still needed to better understand thy-1's involvement in this condition.<ref>{{cite journal|last=Leifer|first=D|title=Thy-1 in hippocampus: normal anatomy and neuritic growth in Alzheimer's disease.|journal=Journal of Neuropathology & Experimental Neurology|date=March 1992|volume=51|issue=2|pages=133–41|doi=10.1097/00005072-199203000-00003}}</ref>