1. Zuchner S, Wang G, Tran-Viet K-N, Nance MA, Gaskell PC, Vance JM, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006;79:365–9.
2. Toft A, Birk S, Ballegaard M, Dunø M, Hjermind LE, Nielsen JE, et al. Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. J Neurol. 2019;266:735–44.
3. Beetz C, Schule R, Deconinck T, Tran-Viet K-N, Zhu H, Kremer BPH, et al. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008;131:1078–86.
4. Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet. 2008;9:71.
5. Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Sole G, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011;32:1118–27.
6. Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, et al. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics. 2009;10:105–10.
7. Du J, Shen L, Zhao GH, Wang YG, Liao SS, Chen C, et al. Receptor expressionenhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. Chin Med J (Engl). 2009;122:2064–6.
8. Kim T-H, Lee J-H, Park Y-E, Shin J-H, Nam T-S, Kim H-S, et al. Mutation analysis of SPAST, ATL1, and REEP1 in Korean patients with hereditary spastic paraplegia. J Clin Neurol. 2014;10:257–61.
9. Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, et al. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet. 2014;59:163–72.
10. Koh K, Ishiura H, Tsuji S, Takiyama Y. JASPAC: Japan Spastic Paraplegia Research Consortium. Brain Sci. 2018;8:153.
11. Park HJ, Lee MJ, Lee JE, Park KD, Choi Y-C. Pathogenic variant of REEP1 in a Korean family with autosomal-dominant hereditary spastic paraplegia. J Clin Neurol. 2018;14:248–50.
12. Kamada M, Kawarai T, Miyamoto R, Kawakita R, Tojima Y, Montecchiani C, et al. Spastic paraplegia type 31: a novel REEP1 splice site donor variant and expansion of the phenotype variability. Parkinsonism Relat Disord. 2018;46:79–83.
13. Richard S, Lavie J, Banneau G, Voirand N, Lavandier K, Debouverie M. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: case report and literature review. Medicine (Baltimore). 2017;96:e5911.
14. Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012;91:139–45.
15. Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, et al. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain. 2018;141:3331–42.
16. Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. 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. J Neurol Sci. 2011;306:62–65.
17. Orlacchio A, Kawarai T, Gaudiello F, Totaro A, Schillaci O, Stefani A, et al. Clinical and genetic study of a large SPG4 Italian family. Mov Disord. 2005;20:1055–9.
18. Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, et al. A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. Eur J Hum Genet. 2007;15:1276–9.
19. Simpkins JW, Singh M. More than a decade of estrogen neuroprotection. Alzheimers Dement. 2008;4:S131–S136.
20. Schumacher M, Guennoun R, Robert F, Carelli C, Gago N, Ghoumari A, et al. Local synthesis and dual actions of progesterone in the nervous system: neuroprotection and myelination. Growth Horm IGF Res. 2004;14(Suppl A):S18–33.
21. Park SH, Zhu PP, Parker RL, Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest. 2010;120:1097–110.
22. Fink JK. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126:307–28.