id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_2fmeyyxpdvacdokpmzkanrxkru	M. Chiara Manzini	Developmental and degenerative features in a complicated spastic paraplegia	2009.0	10	.pdf	application/pdf	5576	561	56	Objective: We sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs). however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay— core features of Troyer syndrome—and a novel mutation in the SPG20 gene, which is also mutated in the Amish. Results: Two Omani families carrying a novel SPG20 mutation displayed clinical features remarkably similar to the Interpretation: Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and FIGURE 1: Affected individuals carry a homozygous null mutation in the SPG20 gene. cell lines showed that full-length SPG20 protein is missing in the affected individuals (A) compared with a nonaffected in this region (see Fig 1B), SPG20 was the strongest candidate gene, because individuals carrying an SPG20 mutation were affected with a remarkably similar phenotype, a In the brainTABLE: Clinical Features of the Omani Troyer Syndrome Individuals and Comparison with the Amish Cohort	./cache/work_2fmeyyxpdvacdokpmzkanrxkru.pdf	./txt/work_2fmeyyxpdvacdokpmzkanrxkru.txt