Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr Variant

참고문헌 (6)

1. Konno T, "Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation", Eur J Neurol, 24, pp.37~45 (2017)
2. Lynch DS, "Analysis of mutations in AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", JAMA Neurol, 73, pp.1433~1439 (2016)
3. Chamard L, "Cognitive impairment involving social cognition in SPG4 hereditary spastic paraplegia", Behav Neurol, 2016, pp.6423461~ (2016)
4. Murphy S, "Dementia in SPG4 hereditary spastic paraplegia : clinical, genetic, and neuropathologic evidence", Neurology, 73, pp.378~384 (2009)
5. Schieving JH, "De novo SPAST mutations may cause a complex SPG4 phenotype", Brain, 142, pp.e31~ (2019)
6. Schulze TG, "Defining the phenotype in human genetic studies : forward genetics and reverse phenotyping", Hum Hered, 58, pp.131~138 (2004)

관련 논문AI추천