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Cerebral sclerosis similar to Pelizaeus-Merzbacher disease

MedGen UID:
395210
•Concept ID:
C1859258
•
Disease or Syndrome
Synonym: Pelizaeus-Merzbacher like brain sclerosis
 
Monarch Initiative: MONDO:0008950
OMIM®: 213900

Clinical features

From HPO
Abnormality of the nervous system
MedGen UID:
105425
•Concept ID:
C0497552
•
Congenital Abnormality
An abnormality of the nervous system.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
Hudson LD, Puckett C, Berndt J, Chan J, Gencic S
Proc Natl Acad Sci U S A 1989 Oct;86(20):8128-31. doi: 10.1073/pnas.86.20.8128. PMID: 2479017Free PMC Article

Diagnosis

Genetics of Pelizaeus-Merzbacher disease.
Hodes ME, Pratt VM, Dlouhy SR
Dev Neurosci 1993;15(6):383-94. doi: 10.1159/000111361. PMID: 7530633
MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease.
Silverstein AM, Hirsh DK, Trobe JD, Gebarski SS
AJNR Am J Neuroradiol 1990 May;11(3):495-9. PMID: 2112314Free PMC Article
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
Hudson LD, Puckett C, Berndt J, Chan J, Gencic S
Proc Natl Acad Sci U S A 1989 Oct;86(20):8128-31. doi: 10.1073/pnas.86.20.8128. PMID: 2479017Free PMC Article
Vestibular studies in Pelizaeus-Merzbacher disease.
Mallinson AI, Longridge NS, Dunn HG, McCormick AQ
J Otolaryngol 1983 Dec;12(6):361-4. PMID: 6663662
Sex-linked hereditary ataxic deplegia, the borderland between cerebral palsy and Pelizaeus-Merzbacher disease.
Dunn HG, Thompson MW, Bandler E, Andrews LG
Can J Neurol Sci 1974 Nov;1(4):226-35. doi: 10.1017/s0317167100019818. PMID: 4441987

Prognosis

Current concepts of PLP and its role in the nervous system.
Griffiths I, Klugmann M, Anderson T, Thomson C, Vouyiouklis D, Nave KA
Microsc Res Tech 1998 Jun 1;41(5):344-58. doi: 10.1002/(SICI)1097-0029(19980601)41:5<344::AID-JEMT2>3.0.CO;2-Q. PMID: 9672418
Sex-linked hereditary ataxic deplegia, the borderland between cerebral palsy and Pelizaeus-Merzbacher disease.
Dunn HG, Thompson MW, Bandler E, Andrews LG
Can J Neurol Sci 1974 Nov;1(4):226-35. doi: 10.1017/s0317167100019818. PMID: 4441987

Clinical prediction guides

Current concepts of PLP and its role in the nervous system.
Griffiths I, Klugmann M, Anderson T, Thomson C, Vouyiouklis D, Nave KA
Microsc Res Tech 1998 Jun 1;41(5):344-58. doi: 10.1002/(SICI)1097-0029(19980601)41:5<344::AID-JEMT2>3.0.CO;2-Q. PMID: 9672418
Seitelberger's connatal form of Pelizaeus-Merzbacher Disease. Case report, clinical, pathological and biochemical findings.
Ulrich J, Herschkowitz N
Acta Neuropathol 1977 Oct 10;40(2):129-36. doi: 10.1007/BF00688701. PMID: 201145

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