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Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ. Chen X, et al. J Clin Invest. 2023 May 15;133(10):e164575. doi: 10.1172/JCI164575. J Clin Invest. 2023. PMID: 36951961 Free PMC article.
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent intellect …
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4 …
A Case of Miyazaki Syndrome Caused by Arachnoid Cyst-Peritoneal Shunt.
Ichikawa T, Yasuda R, Maeda M, Matsuyama H, Matsuura K, Asada R, Shiba M, Suzuki H. Ichikawa T, et al. World Neurosurg. 2021 Feb;146:85-89. doi: 10.1016/j.wneu.2020.10.094. Epub 2020 Oct 23. World Neurosurg. 2021. PMID: 33257305
CASE DESCRIPTION: We report a case of a 42-year-old man with 12-year progressive spastic paraplegia, who underwent CP shunt for an AC at the age of 15 years. ...
CASE DESCRIPTION: We report a case of a 42-year-old man with 12-year progressive spastic paraplegia, who underwent CP s …
Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.
Kang SY, Lee MH, Lee SK, Sohn YH. Kang SY, et al. Parkinsonism Relat Disord. 2004 Oct;10(7):425-7. doi: 10.1016/j.parkreldis.2004.05.003. Parkinsonism Relat Disord. 2004. PMID: 15465400
We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. ...
We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive …