Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Neurology

Volumn 47, Issue 5, 1996, Pages 1333-1335

  Nance, M A ^b   Boyadjiev, S ^a   Pratt, V M ^a   Taylor, S ^c   Hodes, M E ^a   Dlouhy, S R ^a  

^a INDIANA UNIVERSITY   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c HENNEPIN COUNTY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ADULT; ARTICLE; CASE REPORT; DEGENERATIVE DISEASE; EXON; FEMALE; GAIT DISORDER; GENE MUTATION; HETEROZYGOSITY; HUMAN; LEUKODYSTROPHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL;

EID: 0029960739     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.5.1333     Document Type: Article

References (9)

1. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms usingthe polymerase chain reaction. Genomics 1989;5:874-879.
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3. Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. Am J Hum Genet 1993;52:1053-1056.
4. Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A. Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Hum Genet 1988;80: 393-394.
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7. Mäenpää J, Lindahl E, Aula P, Savontaus M-L. Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis. Clin Genet 1990;37:141-146.
8. Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dlouhy SR. 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.
9. Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR. A nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Am J Med Genet 1996 (in press).