A nationwide survey on Marinesco-Sjogren syndrome in Japan.

ABSTRACT:

Background

Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and genetic features are not yet fully understood.

Methods

We conducted a nationwide, questionnaire-based survey on MSS in Japan and carefully reviewed the medical records of 36 patients suspected of having this disease. In addition, pathological examinations of muscles, sequence and haplotype analysis in SIL1 were performed.

Results

The patients had been examined between the ages of 2 and 52 years. Delayed psychomotor development and cataracts from early childhood were observed

SUBMITTER: Goto M 

PROVIDER: S-EPMC4021608 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature