Clinical and genetic study of a novel mutation in the REEP1 gene.

OBJECTIVE

To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).

METHOD: To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed.

RESULT: A novel splice-site mutation (REEP1 c417+1g>a) was identified. Central motor conduction time to the first metatarsal interosseus and anterior tibial muscles were clearly prolonged. Thoracic cord atrophy was found from T1 to T10.

CONCLUSION

Our study supports that mutations in REEP1 cause ADHSP and demonstrates genetic heterogeneity in ADHSP. Synapse