Different mutations in the same codon of the proteolipid protein gene,PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

1999 ◽  
Vol 82 (2) ◽  
pp. 132-139 ◽  
Author(s):  
M.E. Hodes ◽  
Andrew W. Zimmerman ◽  
Antonina Aydanian ◽  
Sakkubai Naidu ◽  
Neil R. Miller ◽  
...  
Keyword(s):  
Protein Gene ◽  
Proteolipid Protein ◽  
Spastic Paraplegia ◽  
Pelizaeus Merzbacher Disease

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

1999 ◽  
Vol 45 (5) ◽  
pp. 624-632 ◽  
Author(s):  
Ken Inoue ◽  
Hitoshi Osaka ◽  
Kiyoshi Imaizumi ◽  
Atsuo Nezu ◽  
Jun-Ichi Takanashi ◽  
...  
Keyword(s):  
Molecular Mechanism ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Gene Duplications ◽  
Pelizaeus Merzbacher Disease

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

1994 ◽  
Vol 6 (3) ◽  
pp. 257-262 ◽  
Author(s):  
Pascale Saugier-Veber ◽  
Arnold Munnich ◽  
Dominique Bonneau ◽  
Jean-Michel Rozet ◽  
Martine Le Merrer ◽  
...  
Keyword(s):  
Proteolipid Protein ◽  
Spastic Paraplegia ◽  
Protein Locus ◽  
Pelizaeus Merzbacher Disease ◽  
Allelic Disorders

A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family

1993 ◽  
Vol 2 (1) ◽  
pp. 19-22 ◽  
Author(s):  
Akiko Iwaki ◽  
Tamaki Muramoto ◽  
Toru Iwaki ◽  
Hiroyasu Furumi ◽  
Maria L. Dario-deLeon ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Japanese Family ◽  
Pelizaeus Merzbacher Disease

Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene

2000 ◽  
Vol 99 (1) ◽  
pp. 7-13 ◽  
Author(s):  
A. Sasaki ◽  
K. Miyanaga ◽  
M. Ototsuji ◽  
A. Iwaki ◽  
T. Iwaki ◽  
...  
Keyword(s):  
Protein Gene ◽  
Proteolipid Protein ◽  
Adult Onset ◽  
Disease Phenotype ◽  
Pelizaeus Merzbacher Disease

scholarly journals A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus

2012 ◽  
Vol 39 (2) ◽  
pp. 220-224 ◽  
Author(s):  
Collette Kathleen Hand ◽  
Geneviève Bernard ◽  
Marie-Pierre Dubé ◽  
Michael Israel Shevell ◽  
Guy Armand Rouleau
Keyword(s):  
Neurodegenerative Disorders ◽  
Clinical Phenotype ◽  
Proteolipid Protein ◽  
Clinical Heterogeneity ◽  
Spastic Paraplegia ◽  
Cerebellar Dysfunction ◽  
Severe Spasticity ◽  
The Family ◽  
Pelizaeus Merzbacher Disease

Objectives:To characterize at clinical and molecular levels a family presenting with X-linked recessive Hereditary Spastic Paraplegia (HSP).Background:HSPs are a large group of genetically heterogeneous neurodegenerative disorders characterized by progressive upper motor neuron signs. Mutations in the proteolipid protein (PLP1) gene have been identified in families linked to the SPG2 locus on chromosome Xq22. However, Pelizaeus-Merzbacher disease (PMD) is also an X-linked recessive neurological disorder caused by PLP1 mutations.Methods:The SPG2 locus was investigated by linkage analysis in the family. The PLP1 gene was screened by sequencing. We present findings in a large French-Canadian family with an X-linked recessive HSP. The proband presented early with developmental delay and developed progressive spastic paraplegia. He has been wheelchair-bound since the age of three years. At the latest follow-up, he was 20 years-old and had severe spasticity predominantly affecting the lower extremities, moderate cerebellar dysfunction, and optic atrophy.Results:Linkage to SPG2 was established and a G to A mutation (M1R) in the initiation codon of the PLP1 gene was identified, likely resulting in the complete absence of proteolipid protein.Conclusion:We report a new PLP1 gene mutation in a patient with a clinical phenotype consistent with a PLP1 null syndrome.

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Neurology ◽  
2000 ◽  
Vol 55 (8) ◽  
pp. 1089-1096 ◽  
Author(s):  
G. M. Hobson ◽  
A. P. Davis ◽  
N. C. Stowell ◽  
E. H. Kolodny ◽  
E. A. Sistermans ◽  
...  
Keyword(s):  
Protein Gene ◽  
Proteolipid Protein ◽  
Noncoding Regions ◽  
Pelizaeus Merzbacher Disease
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