Research & Literature

Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

Servelhere KR, Faber I, Saute JA, et al.

European journal of neurology 2016; (23(2)):408-11 doi:10.1111/ene.12839.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E, Tucci A, Manzoni C, et al.

Brain : a journal of neurology 2016; (139(Pt 7)):1904-18 doi:10.1093/brain/aww111.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Polymeris AA, Tessa A, Anagnostopoulou K, et al.

Journal of neurology 2016; (263(8)):1604-11 doi:10.1007/s00415-016-8179-z.

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, et al.

Cerebellum (London, England) 2017; (16(2)):525-551 doi:10.1007/s12311-016-0803-z.

Selective dorsal rhizotomy for hereditary spastic paraparesis in children.

Sharma J, Bonfield C, Steinbok P

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(8)):1489-94 doi:10.1007/s00381-016-3122-2.

Gait Patterns in Patients with Hereditary Spastic Paraparesis.

Serrao M, Rinaldi M, Ranavolo A, et al.

PloS one 2016; (11(10)):e0164623 doi:10.1371/journal.pone.0164623.

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

Krenn M, Zulehner G, Hotzy C, et al.

European journal of neurology 2017; (24(5)):741-747 doi:10.1111/ene.13279.

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.

Allison R, Edgar JR, Pearson G, et al.

The Journal of cell biology 2017; (216(5)):1337-1355 doi:10.1083/jcb.201609033.

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia.

Nonnekes J, van Lith B, van de Warrenburg BP, et al.

Journal of rehabilitation medicine 2017; (49(5)):369-377 doi:10.2340/16501977-2227.

Anaesthesia and orphan disease: Management of a case of Strumpell-Lorrain disease and review of the literature.

Ponsonnard S, Damon A, Gueye EM

European journal of anaesthesiology 2017; (34(8)):562-563 doi:10.1097/EJA.0000000000000615.

Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders.

Faber I, Branco LMT, França Júnior MC

Dementia & neuropsychologia 2016; (10(4)):276-279 doi:10.1590/s1980-5764-2016dn1004004.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Leveille E, Gonorazky HD, Rioux MF, et al.

Molecular genetics & genomic medicine 2018; (6(6)):1134-1139 doi:10.1002/mgg3.492.

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Pascual B, de Bot ST, Daniels MR, et al.

AJNR. American journal of neuroradiology 2019; (40(1)):199-203 doi:10.3174/ajnr.A5935.

Hereditary primary lateral sclerosis and progressive nonfluent aphasia.

Gazulla J, Ferrer I, Izquierdo-Alvarez S, et al.

Journal of neurology 2019; (266(5)):1079-1090 doi:10.1007/s00415-019-09235-x.

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course.

Hong D, Cong L, Zhong S, et al.

Annals of clinical and translational neurology 2019; (6(3)):610-614 doi:10.1002/acn3.717.

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.

van Lith BJH, den Boer J, van de Warrenburg BPC, et al.

Journal of rehabilitation medicine 2019; (51(6)):434-441 doi:10.2340/16501977-2556.

Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.

Kerstens HCJW, Satink T, Nijkrake MJ, et al.

Disability and rehabilitation 2020; (42(26)):3744-3751 doi:10.1080/09638288.2019.1610084.

Ascending Axonal Degeneration of the Corticospinal Tract in Pure Hereditary Spastic Paraplegia: A Cross-Sectional DTI Study.

List J, Kohl Z, Winkler J, et al.

Brain sciences 2019; (9(10)) doi:10.3390/brainsci9100268.

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.

Luo WJ, Wei Q, Dong HL, et al.

Molecular genetics & genomic medicine 2020; (8(1)):e1065 doi:10.1002/mgg3.1065.

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands.

van Lith BJH, Kerstens HCJW, van den Bemd LAC, et al.

Orphanet journal of rare diseases 2020; (15(1)):64 doi:10.1186/s13023-020-1338-4.

Spastin mutations impair coordination between lipid droplet dispersion and reticulum.

Arribat Y, Grepper D, Lagarrigue S, et al.

PLoS genetics 2020; (16(4)):e1008665 doi:10.1371/journal.pgen.1008665.

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis.

Tadepalle N, Robers L, Veronese M, et al.

Life science alliance 2020; (3(6)) doi:10.26508/lsa.202000715.

Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study.

Cui F, Sun L, Qiao J, et al.

Medicine 2020; (99(23)):e20193 doi:10.1097/MD.0000000000020193.

A new paraplegin mutation in a patient with primary progressive multiple sclerosis.

Bellinvia A, Pastò L, Niccolai C, et al.

Multiple sclerosis and related disorders 2020; (44()):102302 doi:10.1016/j.msard.2020.102302.

COVID-19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia.

van de Venis L, van de Warrenburg BPC, Weerdesteyn V, et al.

Journal of neurology 2020; (267(12)):3462-3464 doi:10.1007/s00415-020-10016-0.

Is intrathecal baclofen an effective treatment for children with hereditary spastic paraparesis?

Pointon RS, Whelan H, Raza R, Lodh R

Archives of disease in childhood 2020; (105(10)):1016-1018 doi:10.1136/archdischild-2020-319878.

Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia.

Wang B, Yu Y, Wei L, Zhang Y

Biology open 2020; (9(9)) doi:10.1242/bio.054296.

Improving gait adaptability in patients with hereditary spastic paraplegia (Move-HSP): study protocol for a randomized controlled trial.

van de Venis L, van de Warrenburg BPC, Weerdesteyn V, et al.

Trials 2021; (22(1)):32 doi:10.1186/s13063-020-04932-9.

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.

Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, et al.

Journal of neurology 2021; (268(7)):2429-2440 doi:10.1007/s00415-020-10387-4.

Balance rehabilitation with a virtual reality protocol for patients with hereditary spastic paraplegia: Protocol for a clinical trial.

Zeigelboim BS, José MR, Santos GJBD, et al.

PloS one 2021; (16(4)):e0249095 doi:10.1371/journal.pone.0249095.

GABAB Receptor Chemistry and Pharmacology: Agonists, Antagonists, and Allosteric Modulators.

Nieto A, Bailey T, Kaczanowska K, McDonald P

Current topics in behavioral neurosciences 2022; (52()):81-118 doi:10.1007/7854_2021_232.

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Ebrahimi-Fakhari D, Saffari A, Pearl PL

Molecular genetics and metabolism 2022; (137(4)):436-444 doi:10.1016/j.ymgme.2021.06.006.

Improved Gait Capacity after Bilateral Achilles Tendon Lengthening for Irreducible Pes Equinus Due to Hereditary Spastic Paraplegia: a Case Report.

Nonnekes J, Keijsers N, Witteveen A, Geurts A

Journal of rehabilitation medicine. Clinical communications 2021; (4()):1000059 doi:10.2340/20030711-1000059.

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM, Diniz F, Fussiger H, et al.

Scientific reports 2021; (11(1)):22248 doi:10.1038/s41598-021-01635-2.

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Méreaux JL, Banneau G, Papin M, et al.

Brain : a journal of neurology 2022; (145(3)):1029-1037 doi:10.1093/brain/awab386.

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.

Kessler C, Serna-Higuita LM, Wilke C, et al.

Annals of clinical and translational neurology 2022; (9(3)):326-338 doi:10.1002/acn3.51518.

Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.

Zhu PP, Hung HF, Batchenkova N, et al.

Human molecular genetics 2022; (31(16)):2779-2795 doi:10.1093/hmg/ddac072.

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Teive HAG, Camargo CHF, Pereira ER, et al.

Neurogenetics 2022; (23(3)):167-177 doi:10.1007/s10048-022-00688-3.

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Giannoccaro MP, Matteo E, Bartiromo F, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(9)):5501-5511 doi:10.1007/s10072-022-06145-1.

[Intrathecal Baclofen Therapy for Spastic Paralysis].

Usami K

No shinkei geka. Neurological surgery 2022; (50(6)):1353-1360 doi:10.11477/mf.1436204701.

Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.

Lallemant-Dudek P, Parodi L, Coarelli G, et al.

Annals of physical and rehabilitation medicine 2023; (66(6)):101732 doi:10.1016/j.rehab.2023.101732.

SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.

Montoro-Gámez C, Nolte H, Molinié T, et al.

Brain : a journal of neurology 2023; (146(10)):4117-4131 doi:10.1093/brain/awad136.

Baclofen and Tizanidine Adverse Effects Observed Among Community-Dwelling Adults Above the Age of 50 Years: A Systematic Review.

Killam-Worrall L, Brand R, Castro JR, et al.

The Annals of pharmacotherapy 2024; (58(5)):523-532 doi:10.1177/10600280231193080.

The hereditary spastic paraplegias.

Fink JK

Handbook of clinical neurology 2023; (196()):59-88 doi:10.1016/B978-0-323-98817-9.00022-3.

Characteristics of Changes in Intrathecal Baclofen Dosage over Time due to Causative Disease.

Kimoto Y, Oshino S, Tani N, et al.

Neurologia medico-chirurgica 2023; (63(12)):535-541 doi:10.2176/jns-nmc.2022-0359.

The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review.

Di Ludovico A, Ciarelli F, La Bella S, et al.

Frontiers in neurology 2023; (14()):1292527 doi:10.3389/fneur.2023.1292527.

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

Kojima F, Okamoto Y, Ando M, et al.

Neurogenetics 2024; (25(2)):149-156 doi:10.1007/s10048-024-00746-y.

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.

Cao Y, Zheng H, Zhu Z, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(4)):651-662 doi:10.1002/mds.29728.

Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant.

Hjartarson HT, Skott H, Granberg T, Paucar M

eNeurologicalSci 2024; (35()):100497 doi:10.1016/j.ensci.2024.100497.

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Hamamie-Chaar A, Renaud M, Gençpinar P, et al.

Journal of neurology 2024; (271(9)):6343-6348 doi:10.1007/s00415-024-12565-0.

Are clinical tests and biomechanical measures of gait stability able to differentiate fallers from non-fallers in hereditary spastic paraplegia?

van de Venis L, Ormiston J, Bruijn S, et al.

Gait & posture 2024; (114()):270-276 doi:10.1016/j.gaitpost.2024.10.017.

[Selective dorsal rhizotomy in children with hereditary spastic paraplegia].

Smolyankina EI, Zinenko DY

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko 2025; (89(1)):46-51 doi:10.17116/neiro20258901146.

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.

Assaedi E, Ashtiani S, Estiar MA, et al.

Movement disorders clinical practice 2025; (12(9)):1346-1356 doi:10.1002/mdc3.70115.

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Kessler C, Wilke C, Hengel H, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2026; (27(1-2)):110-117 doi:10.1080/21678421.2025.2557936.

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia.

Schmidt HJD, Battaglia N, Rong J, et al.

Annals of clinical and translational neurology 2026; (13(1)):193-199 doi:10.1002/acn3.70244.

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Choi Y, Kim SH, Ahn SJ, et al.

Yonsei medical journal 2026; (67(1)):34-41 doi:10.3349/ymj.2024.0500.

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M, Indelicato E, Eigentler A, et al.

Journal of neurology 2026; (273(2)):97.

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.

Kang C, Rajalingam R, Walls Z, et al.

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70559.