Leukodystrophies (Print Version)

The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with

Movement
Speaking
Vision
Hearing
Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time.

There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.

National Institute of Neurological Disorders and Stroke

Start Here

Leukodystrophy(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

Overviews

What Is Leukodystrophy?(United Leukodystrophy Foundation) - http://www.ulf.org/whatis.html

Diagnosis/Symptoms

Magnetic Resonance Imaging (MRI)(United Leukodystrophy Foundation) - http://www.ulf.org/patients/MRIfacts.html

Treatment

Cerebral X-Linked Adrenoleukodystrophy (ALD) and Transplant(National Marrow Donor Program) - http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Lrn_about_Disease/Metabolic_Storage/ALD_and_Tx/
Globoid-Cell Leukodystrophy (Krabbe Disease) and Transplant(National Marrow Donor Program) - http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Lrn_about_Disease/Metabolic_Storage/GLD_and_Tx/index.html

Specific Conditions

18q-Syndrome(United Leukodystrophy Foundation) - http://www.ulf.org/types/18q.html
Adrenoleukodystrophy(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm
Adrenomyeloneuropathy (AMN)(United Leukodystrophy Foundation) - http://www.ulf.org/types/AMN.html
Aicardi-Goutieres Syndrome(United Leukodystrophy Foundation) - http://www.ulf.org/types/Aicardi.html
Alexander Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm
Canavan Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/canavan/canavan.htm
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infacts and Leukoencephalopathy (CADASIL)(United Leukodystrophy Foundation) - http://www.ulf.org/types/Cadasil.html
Cerebrtendinous Xanthomatosis (CTX)(United Leukodystrophy Foundation) - http://www.ulf.org/types/CTX.html
Infantile Refsum Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm
Krabbe Disease(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/krabbe-disease/DS00937/DSECTION=all&METHOD=print
Krabbe Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm
Metachromatic Leukodystrophy(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm
Niemann-Pick Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/niemann/niemann.htm
Pelizaeus-Merzbacher Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm
Refsum Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/refsum/refsum.htm
Sjogren-Larsson Syndrome(United Leukodystrophy Foundation) - http://www.ulf.org/types/SLS.html
Van der Knapp Syndrome(United Leukodystrophy Foundation) - http://www.ulf.org/types/vanderknapp.html
Vanishing White Matter Disease(United Leukodystrophy Foundation) - http://www.ulf.org/types/VWM.html
Zellweger Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm

Clinical Trials

ClinicalTrials.gov: Adrenoleukodystrophy(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Adrenoleukodystrophy%22
ClinicalTrials.gov: Canavan Disease(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Canavan+Disease%22
ClinicalTrials.gov: Leukodystrophy, Globoid Cell(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Leukodystrophy,+Globoid+Cell%22
ClinicalTrials.gov: Leukodystrophy, Metachromatic(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Leukodystrophy,+Metachromatic%22

Genetics

Genetic Inheritance(United Leukodystrophy Foundation) - http://www.ulf.org/patients/inheritance.html
Genetics Home Reference: Alexander disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=alexanderdisease
Genetics Home Reference: Canavan disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=canavandisease
Genetics Home Reference: Krabbe disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=krabbedisease
Genetics Home Reference: Leukoencephalopathy with vanishing white matter(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=leukoencephalopathywithvanishingwhitematter
Genetics Home Reference: Megalencephalic leukoencephalopathy with subcortical cysts(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=megalencephalicleukoencephalopathywithsubcorticalcysts
Genetics Home Reference: Metachromatic leukodystrophy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy
Genetics Home Reference: Pelizaeus-Merzbacher disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease
Genetics Home Reference: X-linked adrenoleukodystrophy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=xlinkedadrenoleukodystrophy

Journal Articles

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

Article: Complicated lessons: Lorenzo Odone and medical miracles. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19291841&tool=MedlinePlus
Article: A 7-year-old boy with behavioral problems. X-linked adrenoleukodystrophy. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19263780&tool=MedlinePlus
Article: Choking on food: a rare case of alexander leukodystrophy and... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19259028&tool=MedlinePlus
Leukodystrophies -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=(leukodystrophy,globoid+cell[majr]+OR+leukodystrophy,metachromatic[majr]+OR+canavan+disease[majr]+OR+adrenoleukodystrophy[majr]+OR+zellweger+syndrome[majr]+OR+refsum+disease[majr]+OR+xanthomatosis,cerebrotendinous[majr]+OR+alexander+disease[majr])+AND+english[la]+AND+humans[mh]+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus

Medical Encyclopedia

Leukodystrophies - http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&binning-state=group%3d%3dMedical%20Encyclopedia&query=Leukodystrophies

Dictionaries/Glossaries

Leukodystrophy Glossary/Terms(United Leukodystrophy Foundation) - http://www.ulf.org/resources/glossary.html

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

Canavan Foundation - http://www.canavanfoundation.org/
Hunter's Hope Foundation - http://www.huntershope.org/
National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
United Leukodystrophy Foundation - http://www.ulf.org/

You may also be interested in these MedlinePlus related pages:

Degenerative Nerve Diseases - http://www.nlm.nih.gov/medlineplus/degenerativenervediseases.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 Leukodystrophies is the National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/