Introduction
The hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity and weakness in the lower limbs and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. To date, more than 40 HSP-related genes have been identified. About 27 genes are known to be inherited in an autosomal recessive pattern. Among the many autosomal recessive forms, SPG11 appears to be one of the most frequent.
Case report
A 21-year-old male (patient 1, proband) with healthy nonconsanguineous parents presented with progressive stiffness and weakness of both legs. He had normal motor and mental developments in early childhood, but developed progressive spasticity and weakness of both legs, mild dysarthria and mental decline at the age of 13 years. A 18-year-old patient’s sister (patient 2) also presented with a progressive weakness of both legs. At the age of 15 years, she began to have progressive gait disturbance, mild dysarthria, and mild cognitive impairment. Brain magnetic resonance imaging of the two patients revealed extreme thinning of corpus callosum.
Two pathogenic heterozygous c.5989_5992del (p.Leu1997Metfs*60) and c.3291+1G>T variants of SPG11 on the basis of the reference sequence NM_025137.3 were identified using the TruSight One Sequencing Panel (Illumina, San Diego, CA, USA) at Green Cross Genome (Yongin, Republic of Korea). This variant was confirmed by Sanger sequencing of samples from the family. His father and mother were heterozygous for the c.3291+1G>T and c.5989_5992del (p.Leu1997Metfs*60) variant, respectively.
Conclusion
We report here the Korean family with HSP due to SPG11. SPG11 should be suspected in patients with isolated or recessive HSP, thin corpus callosum and cognitive impairment. |
