PMID- 10319897
OWN - NLM
STAT- MEDLINE
DCOM- 19990525
LR  - 20041117
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 45
IP  - 5
DP  - 1999 May
TI  - Novel exon 3B proteolipid protein gene mutation causing late-onset spastic
      paraplegia type 2 with variable penetrance in female family members.
PG  - 680-3
AB  - Spastic paraplegia type 2 (SPG2) is allelic to Pelizaeus-Merzbacher disease
      (PMD), with both conditions resulting from mutations in the proteolipid protein
      gene (PLP). We report an SPG2 family in which 3 male members and a heterozygous
      female member were affected with spastic paraplegia characterized by relatively
      late onset and mild clinical manifestations. A unique H147Y mutation in exon 3B
      of the PLP altering the proteolipid protein (PLP) but not the alternatively
      spliced DM20 isoform was identified as the cause of this distinct disease
      phenotype. Cellular pathology studies of SPG2 mutations offer an explanation for 
      the paradoxical finding that mutations associated with the mildest phenotype in
      male family members also affect female carriers.
FAU - Sivakumar, K
AU  - Sivakumar K
AD  - Medical Neurology Branch, National Institute of Neurological Disorders and
      Stroke, National Institutes of Health, Bethesda, MD 20892-1361, USA.
FAU - Sambuughin, N
AU  - Sambuughin N
FAU - Selenge, B
AU  - Selenge B
FAU - Nagle, J W
AU  - Nagle JW
FAU - Baasanjav, D
AU  - Baasanjav D
FAU - Hudson, L D
AU  - Hudson LD
FAU - Goldfarb, L G
AU  - Goldfarb LG
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (Myelin Proteolipid Protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Exons
MH  - Female
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Myelin Proteolipid Protein/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Spastic Paraplegia, Hereditary/*genetics
MH  - Time Factors
EDAT- 1999/05/13 00:00
MHDA- 1999/05/13 00:01
CRDT- 1999/05/13 00:00
PHST- 1999/05/13 00:00 [pubmed]
PHST- 1999/05/13 00:01 [medline]
PHST- 1999/05/13 00:00 [entrez]
PST - ppublish
SO  - Ann Neurol. 1999 May;45(5):680-3.