Genetic Brain Disorders (Print Version)

Also called: Also called: Inborn genetic brain disorders

A genetic disorder is a disease caused by a different form of a gene, called a variation, or a change in a gene, called a mutation. Genetic brain disorders specifically affect the development and function of the brain.

Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. Still other disorders are due to a combination of genetic changes and other outside factors. Some examples of genetic brain disorders include leukodystrophies, phenylketonuria, Tay-Sachs disease, and Wilson disease.

Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some are life-threatening.

Prevention/Screening

MedlinePlus: Newborn Screening(National Library of Medicine) - http://www.nlm.nih.gov/medlineplus/newbornscreening.html
Also available in Spanish http://www.nlm.nih.gov/medlineplus/spanish/newbornscreening.html

Specific Conditions

Cerebellar Degeneration(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degeneration.htm
Citrullinemia(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/citrullinemia.php
Colpocephaly(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm
Fabry's Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm
Fahr's Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm
Galactosemia(American Liver Foundation) - http://www.liverfoundation.org/education/info/galactosemia/
Gerstmann-Straussler-Scheinker Disease(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/gss/gss.htm
Homocystinuria(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/homocystinuria.php
Joubert Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/joubert/joubert.htm
Leigh's Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm
Lesch-Nyhan Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm
Maple Syrup Urine Disease (MSUD)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/msud.php
Menkes Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/menkes/menkes.htm
Moyamoya Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm
Niemann-Pick Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/niemann/niemann.htm
Niemann-Pick Disease Overview(National Niemann-Pick Disease Foundation) - http://www.nnpdf.org/npdisease_01.html
Nonketotic Hyperglycinemia (NKH)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/nkh.php
Tyrosinemia (TYR) - Type I, II & III(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/tyrosinemia.php
What Is a Urea Cycle Disorder?(National Urea Cycle Disorders Foundation) - http://www.nucdf.org/ucd.htm
Zellweger Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm

Clinical Trials

ClinicalTrials.gov: Brain Diseases, Metabolic, Inborn(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Brain+Diseases,+Metabolic,+Inborn%22
ClinicalTrials.gov: Niemann-Pick Diseases(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Niemann-Pick+Diseases%22

Genetics

Genetics Home Reference: 2-hydroxyglutaric aciduria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=2hydroxyglutaricaciduria
Genetics Home Reference: Aromatic l-amino acid decarboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=aromaticlaminoaciddecarboxylasedeficiency
Genetics Home Reference: Fabry disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fabrydisease
Genetics Home Reference: GLUT1 deficiency syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glut1deficiencysyndrome
Genetics Home Reference: Glutaric acidemia type I(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutaricacidemiatypei
Genetics Home Reference: Lesch-Nyhan syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=leschnyhansyndrome
Genetics Home Reference: Menkes syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=menkessyndrome
Genetics Home Reference: Prion disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=priondisease
Genetics Home Reference: Succinic semialdehyde dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=succinicsemialdehydedehydrogenasedeficiency

Journal Articles

References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Article: Insulin therapy, hyperglycemia, and hypertension in type 1 diabetes mellitus. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18809813&tool=MedlinePlus
Article: Case records of the Massachusetts General Hospital. Case 28-2008. An... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18784106&tool=MedlinePlus
Article: Neurologic damage and neurocognitive dysfunction in urea cycle disorders. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18708004&tool=MedlinePlus
Genetic Brain Disorders -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=brain+diseases,metabolic,inborn[majr]+NOT+(sphingolipidoses[majr]+OR+phenylketonurias[majr]+OR+hepatolenticular+degeneration[majr])+AND+humans[mh]+AND+english[la]+AND+(review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetk[text]+OR+jsubsetaim[text]+OR+jsubsetn[text]+OR+patient+education+handout[pt])+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus

Directories

Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html

Organizations

National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
National Newborn Screening and Genetics Resource Center - http://genes-r-us.uthscsa.edu/
Save Babies through Screening Foundation - http://www.savebabies.org/

You may also be interested in these MedlinePlus related pages:

Genetic Disorders - http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
Genetic Testing - http://www.nlm.nih.gov/medlineplus/genetictesting.html
Leukodystrophies - http://www.nlm.nih.gov/medlineplus/leukodystrophies.html
Metabolic Disorders - http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
Phenylketonuria - http://www.nlm.nih.gov/medlineplus/phenylketonuria.html
Tay-Sachs Disease - http://www.nlm.nih.gov/medlineplus/taysachsdisease.html
Wilson Disease - http://www.nlm.nih.gov/medlineplus/wilsondisease.html
Brain and Nerves - http://www.nlm.nih.gov/medlineplus/brainandnerves.html
Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
Metabolic Problems - http://www.nlm.nih.gov/medlineplus/metabolicproblems.html

The primary NIH organization for research on Genetic Brain Disorders is the National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/