• KSBNS 2024


Case Report

Exp Neurobiol 2013; 22(2): 128-131

Published online June 30, 2013

© The Korean Society for Brain and Neural Sciences

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration

Ji Won Yang1, Ji-Young Han1, Moon-Woo Seong2, Jung-Joon Sung1*, Sung Sup Park2* and Kwang-Woo Lee1

Departments of 1Neurology, 2Laboratory Medicines, Seoul National University Hospital, Seoul 110-744, Korea

Correspondence to: *To whom correspondence should be addressed.
Jung-Joon Sung
TEL: 82-2-2072-1015, FAX: 82-2-762-5684
Sung Sup Park
TEL: 82-2-2072-3206, FAX: 82-2-747-0359


Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.

Keywords: hereditary spastic paraplegia, SPAST protein, subacute combined degeneration