Novel c.775_781dup,p(Thr261fs) mutation in gene in a patient with hereditary spastic paraparesis.

Autor: Bhattacharjee, Shakya, Stinton, Victoria, Cairns, Diane, Murray, Brian
Předmět:
Zdroj: Neurology India; Sep/Oct2017, Vol. 65 Issue 5, p1141-1142, 2p
Abstrakt: The article presents a case study of a elderly gentleman with a medical history of ataxic gait and was admitted to a hospital due to further worsening of his gait and suffered multiple falls due to poor balance. The patient underwent a magnetic resonance imaging which showed a mild cerebellar atrophy and an autosomal recressive hereditary spastic paraplegia due to SPG-7 mutation. The article also discusses the importance of SPG-7 gene to hereditary spastic paraplegia (ARHSP).
Databáze: Complementary Index