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A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.
Zhu ZY, Li ZY, Zhang C, Liu XL, Tian WT, Cao L. Zhu ZY, et al. Eur J Med Genet. 2022 Nov;65(11):104608. doi: 10.1016/j.ejmg.2022.104608. Epub 2022 Sep 12. Eur J Med Genet. 2022. PMID: 36100157 Review.
Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the presence of progressive spasticity and weakness in bilateral lower limbs. Spastic paraplegia 62 (SPG62) caused by the end …
Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the pr …
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. Proukakis C, et al. J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. J Neurol Sci. 2011. PMID: 21546041 Review.
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic paraparesis. ...
BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic …
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. Loureiro JL, et al. JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. JAMA Neurol. 2013. PMID: 23400676 Review.
IMPORTANCE: Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. ...DESIGN: Retrospective medical record review. SETTING: A population-based systematic survey of hereditary ataxias and spastic parapl …
IMPORTANCE: Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tract degeneration. ...DESIG …