Research paper
Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

https://doi.org/10.1016/0960-8966(94)00047-DGet rights and content

Abstract

Cerebral white matter changes have been described in a significant number of individual patients with “pure” congenital muscular dystrophy without clinical evidence of central nervous system involvement. The cause for the imaging changes is unknown but it is possible that they are the result of abnormal expression in the brain of the gene also responsible for the muscular dystrophy. In this study magnetic resonance imaging of the brain was performed on seven sibling pairs with congenital muscular dystrophy and normal intelligence to establish whether imaging changes are consistent within families. Diagnosis of congenital muscular dystrophy was based on clinical and muscle biopsy findings. Children from two families had normal scans; the remaining five sibling pairs showed white matter changes and within each family the changes were virtually identical in severity and distribution. Our data indicate that the central nervous system changes are consistent within individual families, suggesting that they probably relate to the mutation in the congenital muscular dystrophy genes involved in the respective families.

References (14)

There are more references available in the full text version of this article.

Cited by (29)

  • Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

    2010, Neuromuscular Disorders
    Citation Excerpt :

    The immunocytochemical analysis of merosin in the muscle biopsy of this patient showed that the 4H8 antibody was almost negative, while many fibers were still labeled with the 80 kDa antibody suggesting a residual rather than absent merosin status. Patients with MDC1A typically lack merosin expression and have a homogeneous phenotype with early weakness, delayed milestones and normal cognition with typical white matter abnormalities on brain MRI [2,4,5,36]. This is in contrast to cases that show residual merosin expression giving rise to a more heterogeneous group with either severe or considerably milder phenotypes [37].

View all citing articles on Scopus
View full text