Useful links, training resources, evidence and publications – HSPs

Consensus papers

  • Dressler D, Berweck S, Chatzikalfas A, Ebke M, Frank B, Hesse S, Huber M,Krauss JK, Mücke KH, Nolte A, Oelmann HD, Schönle PW, Schmutzler M, PickenbrockH, Van der Ven C, Veelken N, Vogel M, Vogt T, Saberi FA. Intrathecal Baclofen therapy in Germany: Proceedings of the IAB-Interdisciplinary Working Group for Movement Disorders Consensus Meeting. J Neural Transm (Vienna). 2015 Nov;122(11):1573-9. doi: 10.1007/s00702-015-1425-1. Epub 2015 Jul 16.

Evidence

Disease modifying therapies

  • Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, et al. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain 2017.

Medical management of spasticity

  • Bellofatto M, De Michele G, Lovino A, Filla A, Santorelli FM. Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature. Front Neurol. 2019 Jan 22:10:3 doi: 10.3389/fneur.2019.00003. eCollection 2019. PMID: 30723448
  • Broggi G, Servello D, Brock S, Dones I. The treatment of spasticity by intrathecal administration of baclofen: a preliminary personal experience. J Neurosurg Sci 1993; 37(4): 203-8.
  • de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC. Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia. J Rehabil Med 2015; 47(2): 147-53.
  • Franco-Hernandez JA, Rodriguez LM, Ortiz de Landazuri PJ, Hernandez AG. Use of sugammadex in Strumpell-Lorrain disease: a report of two cases. Braz J Anesthesiol 2013; 63(1): 113-5.
  • Geva-Dayan K, Domenievitz D, Zahalka R, Fattal-Valevski A. Botulinum toxin injections for pediatric patients with hereditary spastic paraparesis. J ChildNeurol. 2010 Aug;25(8):969-75.
  • Hecht MJ, Stolze H, Auf dem Brinke M, Giess R, Treig T, Winterholler M, et al. Botulinum neurotoxin type A injections reduce spasticity in mild to moderate hereditary spastic paraplegia–report of 19 cases. Mov Disord 2008; 23(2): 228-33.
  • Klebe S, Stolze H, Kopper F, Lorenz D, Wenzelburger R, Deuschl G, et al. Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia. J Neurol 2005; 252(8): 991-3.
  • Margetis K, Korfias S, Boutos N, Gatzonis S, Themistocleous M, Siatouni A, et al. Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia. Clin Neurol Neurosurg 2014; 123: 142-5.
  • Riccardo M, Angela L, Angela D, Vita P, Giulio L, Pietroq F, et al. Combined Treatment Fkt-Botulinum Toxin Type A (Btx-A) in Patients with Strumpell-Lorrain Disease. Current pharmaceutical design 2016; 22(6): 758-63.
  • Scheuer KH, Svenstrup K, Jennum P, Rogvi-Hansen B, Werdelin L, Fenger K, et al. Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia. Eur J Neurol 2007; 14(6): 663-6.

Physical Therapy and neurorehabilitative treatments

  • Bertolucci F, Di Martino S, Orsucci D, Ienco EC, Siciliano G, Rossi B, Mancuso M, Chisari C. Robotic gait training improves motor skills and quality of life in hereditary spastic paraplegia. NeuroRehabilitation. 2015;36(1):93-9.
  • Seo HG, Oh BM, Kim K. Robot-assisted gait training in a patient with hereditary spastic paraplegia. PM R. 2015 Feb;7(2):210-3.
  • Meythaler JM, Steers WD, Tuel SM, Cross LL, Sesco DC, Haworth CS. Intrathecal baclofen in hereditary spastic paraparesis. Arch Phys Med Rehabil 1992; 73(9): 794-7.
  • Nonnekes J, van Lith B, van de Warrenburg BP, Weerdesteyn V, Geurts ACH. Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. J Rehabil Med 2017; 49(5): 369-77.
  • Sweet LA, O’Neill LM, Dobbs MB. Serial casting for neuromuscular flatfoot and vertical talus in an adolescent with hereditary spastic paraplegia. Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2014; 26(2): 253-64.
  • Zhang Y, Roxburgh R, Huang L, Parsons J, Davies TC. The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients. Gait Posture 2014; 39(4): 1074-9.

Management of urinary symptoms and pain

  • Ribeiro AM, Ferreira CH, Cristine Lemes Mateus-Vasconcelos E, Moroni RM, Brito LM, Brito LG. Physical therapy in the management of pelvic floor muscles hypertonia in a woman with hereditary spastic paraplegia. Case Rep Obstet Gynecol 2014; 2014: 306028.
  • Sakakibara R, Shimizu A, Takahashi O, Tateno F, Kishi M, Aiba Y, Suzuki H, Yamamoto T, Shibata C, Yamanishi T. Lower urinary tract function in familial Spastic Paraplegia. Eur Neurol. 2018;80(3-4):121-125. doi: 10.1159/000494030. Epub 2018 Nov 2.

Others

  • Bensmail D, Quera Salva MA, Roche N, Benyahia S, Bohic M, Denys P, et al. Effect of intrathecal baclofen on sleep and respiratory function in patients with spasticity. Neurology 2006; 67(8): 1432-6.

Diagnosis (non-genetic)

  • Bonnefoy-Mazure A, Turcot K, Kaelin A, De Coulon G, Armand S. Full body gait analysis may improve diagnostic discrimination between hereditary spastic paraplegia and spastic diplegia: a preliminary study. Research in developmental disabilities 2013; 34(1): 495-504.
  • da Graça FF, de Rezende TJR, Vasconcellos LFR, Pedroso JL, Barsottini OGP, França MC Jr. Neuroimaging in Hereditary Spastic Paraplegias: Current use and future perspectives. Front Neurol. 2019 Jan 16;9:1117. doi: 10.3389/fneur.2018.01117. eCollection 2018. Review.