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what is 'Pelizaeus-Merzbacher disease - rare neurological disorder causing delayed development and coordination problems '?
Definition for Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease (PMD) is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
do i have 'Pelizaeus-Merzbacher disease'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'Pelizaeus-Merzbacher disease'
1 - 5 of
8
diagnostic tests
Brain MRI
Pelizaeus-Merzbacher disease and Brain MRI
Lysosomal enzymes
Pelizaeus-Merzbacher disease and Lysosomal enzymes
Nerve conduction studies (NCS)
Pelizaeus-Merzbacher disease and Nerve conduction studies (NCS)
Evoked potential somatosensory
Pelizaeus-Merzbacher disease and Evoked potential somatosensory
Visual evoked potential (VEP)
Pelizaeus-Merzbacher disease and Visual evoked potential (VEP)
Molecular Genetic Studies
Pelizaeus-Merzbacher disease and Molecular Genetic Studies
Brainstem auditory evoked response (BAER)
Pelizaeus-Merzbacher disease and Brainstem auditory evoked response (BAER)
Developmental testing
Pelizaeus-Merzbacher disease and Developmental testing
for more please login, login is free (click to login)
therapeutic procedures for 'Pelizaeus-Merzbacher disease'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Pelizaeus-Merzbacher disease:
therapeutic procedure search results for 'Pelizaeus-Merzbacher disease'
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therapeutic procedures
rankings are computer generated. please consult your health care provider.
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
Pelizaeus-Merzbacher disease and Physical and Occupational Therapy
Orthopedic surgical care
Pelizaeus-Merzbacher disease and Orthopedic surgical care
umbilical cord blood transplant
Pelizaeus-Merzbacher disease and umbilical cord blood transplant
medications search results for 'Pelizaeus-Merzbacher disease'
1 - 5 of
7
medications
rankings are computer generated. please consult your health care provider.
fiber supplements
Pelizaeus-Merzbacher disease and fiber supplements
Baclofen
Pelizaeus-Merzbacher disease and Baclofen
Botulinum toxin
Pelizaeus-Merzbacher disease and Botulinum toxin
Clonazepam
Pelizaeus-Merzbacher disease and Clonazepam
tizanidine
Pelizaeus-Merzbacher disease and tizanidine
senna
Pelizaeus-Merzbacher disease and senna
polyethylene glycol 3350
Pelizaeus-Merzbacher disease and polyethylene glycol 3350
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web search results for 'Pelizaeus-Merzbacher disease'?
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- Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease - Wikipedia, the free encyclopedia
Pelizaeus-Merzbacher disease (PMD) is a rare central nervous system disorder in ... The onset of Pelizaeus-Merzbacher disease is usually in early infancy. ...
http://en.wikipedia.org/wiki/Pelizaeus-Merzbacher_disease
en.wikipedia.org
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summary
Pelizaeus-Merzbacher disease - Genetics Home Reference
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and ... Pelizaeus-Merzbacher disease is caused by an inability to form myelin ...
http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease
ghr.nlm.nih.gov
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summary
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central ... There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard ...
http://www.clevelandclinic.org/health/health-info/docs/1300/1316.asp
www.clevelandclinic.org
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summary
Pelizaeus-Merzbacher Disease Information Page: National Institute of ...
Pelizaeus-Merzbacher disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS)
http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm
www.ninds.nih.gov
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The molecular pathogenesis of Pelizaeus-Merzbacher disease.
In 1885, Pelizaeus described 5 boys in a single family with nystagmus, spastic ... and pathological basis for Pelizaeus-Merzbacher disease (PMD): an X-linked ...
http://www.ncbi.nlm.nih.gov/pubmed/10520936
www.ncbi.nlm.nih.gov
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Pelizaeus-Merzbacher disease - References - Genetics Home Reference
Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles ... Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin ...
http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease/show/References
ghr.nlm.nih.gov
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summary
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin ...
Historically, Pelizaeus-Merzbacher disease has encompassed a host of neurologic ... Pelizaeus-Merzbacher disease (type II) would be predicted to display mutation at ...
http://www.ncbi.nlm.nih.gov/pubmed/2773936
www.ncbi.nlm.nih.gov
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summary
Pelizaeus-Merzbacher Disease Foundation: National Institute of ...
Pelizaeus-Merzbacher Disease Foundation. 1307 White Horse Road, Suite 603. Voorhees, NJ 08043 ... by Pelizaeus-Merzbacher disease by supporting education, ...
http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg843.htm
www.ninds.nih.gov
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summary
PLP1 - proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic ...
Pelizaeus-Merzbacher disease - caused by mutations in the PLP1 gene ... for 50 percent to 70 percent of all Pelizaeus-Merzbacher disease mutations. ...
http://ghr.nlm.nih.gov/gene=plp1
ghr.nlm.nih.gov
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Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.
BACKGROUND AND PURPOSE: Pelizeaus-Merzbacher disease (PMD) is a clinically and ... Pelizaeus-Merzbacher Disease/diagnosis* Pelizaeus-Merzbacher Disease ...
http://www.ncbi.nlm.nih.gov/pubmed/13679292
www.ncbi.nlm.nih.gov
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Pelizaeus-Merzbacher disease - Educational resources - Information ...
... in the Genetics Home Reference condition summary on Pelizaeus-Merzbacher disease. ... Wayne State University: Pelizaeus-Merzbacher disease. Reviewed: March 2008 ...
http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease/...
ghr.nlm.nih.gov
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Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and ...
... history of X-linked Pelizaeus-Merzbacher disease presented for genetic ... in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of ...
http://www.ncbi.nlm.nih.gov/pubmed/1384324
www.ncbi.nlm.nih.gov
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summary
Pelizaeus-Merzbacher disease - MedlinePlus - Health information ...
Genetic Conditions > Pelizaeus-Merzbacher disease > MedlinePlus - Health ... in the Genetics Home Reference condition summary on Pelizaeus-Merzbacher disease. ...
http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease/show/MedlinePlus
ghr.nlm.nih.gov
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summary
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation ...
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a ... 17 patients in 15 unrelated families with similar Pelizaeus-Merzbacher phenotype. ...
http://www.ncbi.nlm.nih.gov/pubmed/1715570
www.ncbi.nlm.nih.gov
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summary
Pelizaeus-Merzbacher disease - Patient support - For patients and ...
... in the Genetics Home Reference condition summary on Pelizaeus-Merzbacher disease. ... United Leukodystrophy Foundation: Pelizaeus-Merzbacher disease ...
http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease/show/Patient+support
ghr.nlm.nih.gov
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summary
Pelizaeus-Merzbacher disease - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Pelizaeus-Merzbacher disease > Related Gene(s) ... proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ...
http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease/show/Related+Gene(s)
ghr.nlm.nih.gov
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Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and ...
Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and ... Pelizaeus-Merzbacher disease (PMD) is a myelin disorder of the CNS that arises ...
http://www.ncbi.nlm.nih.gov/pubmed/10203813
www.ncbi.nlm.nih.gov
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summary
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid ...
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene ... most frequent cause of Pelizaeus-Merzbacher disease (PMD), a severe X-linked ...
http://www.ncbi.nlm.nih.gov/pubmed/15827763?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Pelizaeus-Merzbacher disease: cellular hypersensitivity to ultraviolet ...
Pelizaeus-Merzbacher disease: cellular hypersensitivity to ultraviolet light. ... connatal cases of Pelizaeus-Merzbacher disease (PMD) with cellular ultraviolet ...
http://www.ncbi.nlm.nih.gov/pubmed/1590526
www.ncbi.nlm.nih.gov
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Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene ...
Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene ... Pelizaeus-Merzbacher disease (PMD) is a human X chromosome-linked dysmyelination ...
http://www.ncbi.nlm.nih.gov/pubmed/2480601
www.ncbi.nlm.nih.gov
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summary
PELIZAEUS-MERZBACHER DISEASE - Pedbase.org
PEDBASE.org - The Pediatric Database - Detailed information of PELIZAEUS-MERZBACHER DISEASE ... Powered by Database of Pediatrics- PELIZAEUS-MERZBACHER DISEASE ...
http://pedbase.org/p/pelizaeus-merzbacher-disease/
pedbase.org
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Pelizaeus Merzbacher Brain Sclerosis
... possible that the main title of the report Pelizaeus Merzbacher Brain Sclerosis is not the name you expected. ... Pelizaeus Merzbacher Disease Support Group ...
http://www.webmd.com/hw/health_guide_atoz/nord158.asp
www.webmd.com
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Pelizaeus Merzbacher Brain Sclerosis - Yahoo! Health
... possible that the main title of the report Pelizaeus Merzbacher Brain Sclerosis is not the name you expected. ... Pelizaeus Merzbacher Disease Support Group ...
http://health.yahoo.com/nervous-overview/pelizaeus-merzbache...
health.yahoo.com
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MedlinePlus: Leukodystrophies
Pelizaeus-Merzbacher Disease(National Institute of Neurological Disorders and ... Genetics Home Reference: Pelizaeus-Merzbacher disease(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/leukodystrophies.html
www.nlm.nih.gov
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List of diseases (P) - Wikipedia, the free encyclopedia
Pelizaeus-Merzbacher brain sclerosis. Pelizaeus-Merzbacher disease, recessive, acute infantile ... Pelizaeus-Merzbacher disease. Pelizaeus-Merzbacher ...
http://en.wikipedia.org/wiki/List_of_diseases_(P)
en.wikipedia.org
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Bones, muscles, and connective tissues - Genetics Home Reference
Pelizaeus-Merzbacher disease. Pelvic Horn Syndrome see nail-patella syndrome ... PMD see Pelizaeus-Merzbacher disease. POFD see McCune-Albright syndrome ...
http://www.ghr.nlm.nih.gov/conditionCategory=bonesmusclesandconnectivetissues
www.ghr.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ... Pelizaeus Merzbacher Brain Sclerosis. Pelizaeus-Merzbacher Disease ...
http://www.webmd.com/a-to-z-guides/health-topics/pa-pe.htm
www.webmd.com
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Danon disease - Wikipedia, the free encyclopedia
Lysosomal glycogen storage disease with normal acid maltase" ... other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease. Skin ...
http://en.wikipedia.org/wiki/Danon_disease
en.wikipedia.org
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PLP1 - NextBio
PLP1: This gene encodes a transmembrane proteolipid protein that is the ... this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia ...
http://www.nextbio.com/b/home/home.nb?q=PLP1
www.nextbio.com
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Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces ...
Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two ... well for future treatment of the severe forms of Pelizaeus-Merzbacher disease. ...
http://www.ncbi.nlm.nih.gov/pubmed/14572140
www.ncbi.nlm.nih.gov
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Dent's disease - Wikipedia, the free encyclopedia
Responsiveness of Hypercalciuria to Thiazide in Dent's Disease ... other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease. Skin ...
http://en.wikipedia.org/wiki/Dent's_disease
en.wikipedia.org
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Eyes and vision - Genetics Home Reference
Pelizaeus-Merzbacher disease. Pepper syndrome see Cohen syndrome. Peters plus syndrome ... PMD see Pelizaeus-Merzbacher disease ...
http://ghr.nlm.nih.gov/conditionCategory=eyesandvision
ghr.nlm.nih.gov
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PLP1-Related Disorders -- GeneReviews -- NCBI Bookshelf
Pelizaeus-Merzbacher disease (PMD) and X-linked spastic paraplegia 2 (SPG2) are ... J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pmd
www.ncbi.nlm.nih.gov
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Leukodystrophy Information Page: National Institute of Neurological ...
Leukodystrophy information sheet compiled by NINDS. ... disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, ...
http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm
www.ninds.nih.gov
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Neurodegenerative disease - Wikipedia, the free encyclopedia
Amyotrophic lateral sclerosis (Lou Gehrig's Disease) Ataxia telangiectasia ... Pelizaeus-Merzbacher Disease. Pick's disease. Primary lateral sclerosis. Prion diseases ...
http://en.wikipedia.org/wiki/Neurodegenerative_disease
en.wikipedia.org
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PLP1 - References - Genetics Home Reference
Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis. Cell Mol ... Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles ...
http://ghr.nlm.nih.gov/gene=plp1/show/References
ghr.nlm.nih.gov
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Leukodystrophy
Important It is possible that the main title of the report Leukodystrophy is not ... Pelizaeus-Merzbacher Disease. Alexander Disease. Canavan Disease ...
http://www.webmd.com/brain/leukodystrophy-10644
www.webmd.com
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PLP1-Related Disorders
include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia ... Pratt VM, et al. Pelizaeus-Merzbacher disease caused by de novo ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Mutations in noncoding regions of the proteolipid protein gene in ...
... noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. ... BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/11071483?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Mutations in the gene encoding gap junction protein alpha 12 (connexin ...
... 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. ... Pelizaeus-Merzbacher Disease/physiopathology. Protein Structure, Secondary. Substances: ...
http://www.ncbi.nlm.nih.gov/pubmed/15192806
www.ncbi.nlm.nih.gov
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Spastic paraplegia type 2 - References - Genetics Home Reference
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin ... dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia ...
http://ghr.nlm.nih.gov/condition=spasticparaplegiatype2/show/References
ghr.nlm.nih.gov
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Fabry's disease - Wikipedia, the free encyclopedia
Hide and Seek Foundation For Lysosomal Disease Research. v ? d ? e ... other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease. Skin ...
http://en.wikipedia.org/wiki/Fabry's_disease
en.wikipedia.org
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Leukodystrophy
... disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, ... most common symptom of a leukodystrophy disease is a gradual decline in an ...
http://www.ninds.nih.gov/disorders/leukodystrophy/xml_leukodystrophy.xml
www.ninds.nih.gov
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Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher ...
"Pelizaeus-Merzbacher-like syndrome" is an undetermined leukodystrophy disorder ... indistinguishable from classical Pelizaeus-Merzbacher disease (PMD), but the ...
http://www.ncbi.nlm.nih.gov/pubmed/15214007
www.ncbi.nlm.nih.gov
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PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher ...
... dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic ... Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia ...
http://www.ncbi.nlm.nih.gov/pubmed/15627202
www.ncbi.nlm.nih.gov
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X-linked lymphoproliferative disease - Wikipedia, the free encyclopedia
Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked ... other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease. Skin ...
http://en.wikipedia.org/wiki/X-linked_lymphoproliferative_disease
en.wikipedia.org
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Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher ...
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. ... Pelizaeus-Merzbacher disease (PMD) is a rare X-chromosomal neurodegenerative ...
http://www.ncbi.nlm.nih.gov/pubmed/15712223?dopt=Abstract
www.ncbi.nlm.nih.gov
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NINDS Disorders in xml format: National Institute of Neurological ...
Acid Lipase Disease. Acute Disseminated Encephalomyelitis. Adrenoleukodystrophy ... Pelizaeus-Merzbacher Disease. Peripheral Neuropathy. Periventricular Leukomalacia ...
http://www.ninds.nih.gov/disorders/xml_index_RSS_disorders_xml.xml
www.ninds.nih.gov
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Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are ...
... most frequent form is Pelizaeus-Merzbacher disease, which is due to alterations ... Another form, Pelizaeus-Merzbacher-like disease, is partly associated with ...
http://www.ncbi.nlm.nih.gov/pubmed/17171653
www.ncbi.nlm.nih.gov
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Brain cDNA clone: QmoA-10315, similar to human proteolipid protein 1 ...
Crab-eating macaque protein-coding gene. Represented by 63 ESTs from 7 ... QmoA-10315, similar to human proteolipid protein 1 (Pelizaeus-Merzbacher disease, ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mfa&CID=14076
www.ncbi.nlm.nih.gov
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quick facts
category
genetic or congenital
neurology
frequency
rare (U.S. male)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
abnormal gait
rapid eye movements
some related diagnoses
alcoholic cerebellar degeneration
multiple sclerosis
intracranial tumor
hereditary ataxias, adult type
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