Annals of Clinical Neurophysiology

"Hereditary spastic paraplegia"

Case Report

Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene: Sa-Yoon Kang, Joong Goo Kim, Jung Hwhan Oh; Ann Clin Neurophysiol 2020;22(2):121-124. Published online October 28, 2020; DOI: https://doi.org/10.14253/acn.2020.22.2.121

The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.

Citations

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Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics
Justyna Chojdak-Łukasiewicz, Katarzyna Sulima, Anna Zimny, Marta Waliszewska-Prosół, Sławomir Budrewicz
International Journal of Molecular Sciences.2023; 24(24): 17530. CrossRef

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One Family with Hereditary Spastic Paraplegiadue to SPG4 Gene Mutation: Jeong-Seon Cho, Doo-Eung Kim, Jung-Mee Kim, Young-Su Han, Sang-Won Ha, Sang-Eun Park, Jeong-Ho Han, Eun-Kyoung Cho; J Korean Soc Clin Neurophysiol 2005;7(2):138-140.

Abstract
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Str?pell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.