Clinical findings in Pelizaeus-Merzbacher disease

Journal of Child Neurology

Volumn 19, Issue 5, 2004, Pages 328-331

  Golomb, Meredith R ^a,b   Walsh, Laurence E ^a   Carvalho, Karen S ^a   Christensen, Celanie K ^a   DeMyer, William E ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RILEY HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; EPILEPSY; FAMILY HISTORY; FEEDING DISORDER; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; INFANT; MALE; MATERNAL HYPERTENSION; MECONIUM ASPIRATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PNEUMOTHORAX; POINT MUTATION; PRIORITY JOURNAL; SCOLIOSIS; SLEEP DISORDER; SOCIAL INTERACTION; SPASTICITY; SPEECH DISORDER;

EID: 3042701677     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380401900504     Document Type: Article

References (11)

1. Inoue K, Tanaka H, Scaglia E et al: Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol 2001;50:747-754.
2. Hodes ME, DeMyer WE, Pratt VM, et al: Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene. Am J Med Genet 1995;55:397-401.
3. Zeman W, DeMyer W, Falls HF: Pelizaeus-Merzbacher disease: A study in nosology. J Neuropathol Exp Neurol 1964;23:334-354.
4. Boulloche J, Aicardi J: Pelizaeus-Merzbacher disease: Clinical and nosological study. J Child Neurol 1986;1:233-239.
5. Nezu A, Kimura S, Takeshita S, et al: An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr Neurol 1998;18:334-337.
6. Cailloux F, Gauthier-Barichard F, Mimault C, et al: Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 2000; 8:837-845.
7. Osaka H, Kawanishi C, Inoue K, et al: Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity. Ann Neurol 1999;45:59-64.
8. Harding B, Ellis D, Malcolm S: A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Neuropathol Appl Neurobiol 1995;21:111-115.
9. Wang PJ, Hwu WL, Shen YZ: Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies. J Clin Neurophysiol 2001;18:25-32.
10. Dray TG, Hillel AD, Miller RM: Dysphagia caused by neurologic deficits. Otolaryngol Clin North Am 1998;31:507-524.
11. Niakan E, Belluomini J, Lemmi H, et al: Disturbances of rapid-eye-movement sleep in 3 brothers with Pelizaeus-Merzbacher disease. Ann Neurol 1979;6:253-257.