{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T15:26:01Z","timestamp":1780932361442,"version":"3.54.1"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,22]],"date-time":"2020-03-22T00:00:00Z","timestamp":1584835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Mutational analysis of the coding regions of <jats:italic>CYP7B1<\/jats:italic> was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was ascertained by the presence of biallelic <jats:italic>CYP7B1<\/jats:italic> mutations. The SPG5 patients received clinical, electrophysiological, and neuroimaging evaluations. Disease severity was assessed by using the Spastic Paraplegia Rating Scale (SPRS) and the disability score. Two microsatellite markers as well as 18 single\u2010nucleotide polymorphism (SNP) markers flanking <jats:italic>CYP7B1<\/jats:italic> were genotyped to assess the founder effect of the <jats:italic>CYP7B1<\/jats:italic> p.R112* mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nineteen SPG5 patients from 17 families were identified. They typically presented an insidious onset progressive spastic paraparesis with proprioception involvement beginning at age 8 to 40\u00a0years. Their MRIs often showed white matter abnormalities in bilateral occipito\u2010parietal regions, spinal cord atrophy, and mild cerebellar atrophy. Six different mutations in <jats:italic>CYP7B1<\/jats:italic> were recognized, including three novel ones (p.N131Ifs*4, p.A295V, and p.L439R). <jats:italic>CYP7B1<\/jats:italic> p.R112* was the most common mutation and present in 88.2% of the 17 SPG5 pedigrees. The patients with homozygous <jats:italic>CYP7B1<\/jats:italic> p.R112* mutations had a milder clinical severity. Detailed haplotype analyses demonstrated a shared haplotype in the 25 individuals carrying at least one single allele of <jats:italic>CYP7B1<\/jats:italic> p.R112*, suggesting a founder effect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study delineates the distinct clinical and genetic features of SPG5 in Taiwan and provides useful information for the diagnosis and management of SPG5, especially in patients of Chinese descent.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51019","type":"journal-article","created":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T06:01:11Z","timestamp":1584943271000},"page":"486-496","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 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