Research & Literature

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.

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

Synofzik M, Schüle R

Movement disorders : official journal of the Movement Disorder Society 2017; (32(3)):332-345 doi:10.1002/mds.26944.

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.

Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.

Solowska JM, Rao AN, Baas PW

Molecular biology of the cell 2017; (28(13)):1728-1737 doi:10.1091/mbc.E17-01-0047.

Psychiatric comorbidities in movement disorders.

Miguel-Puga A, Villafuerte G, Arias-Carrión O

International review of psychiatry (Abingdon, England) 2017; (29(5)):516-526 doi:10.1080/09540261.2017.1322043.

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.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, et al.

Brain : a journal of neurology 2017; (140(12)):3112-3127 doi:10.1093/brain/awx273.

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.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Parodi L, Fenu S, Barbier M, et al.

Brain : a journal of neurology 2018; (141(12)):3331-3342 doi:10.1093/brain/awy285.

"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 spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population.

Ortega RPM, Rosemberg S

Arquivos de neuro-psiquiatria 2019; (77(1)):10-18 doi:10.1590/0004-282X20180153.

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.

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.

A historical approach to hereditary spastic paraplegia.

Walusinski O

Revue neurologique 2020; (176(4)):225-234 doi:10.1016/j.neurol.2019.11.003.

Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11.

Romagnoli ER, Akly MP, Miquelini LA, et al.

The neuroradiology journal 2021; (34(1)):42-44 doi:10.1177/1971400920953820.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Odake Y, Koh K, Takiyama Y, et al.

Neurology. Genetics 2020; (6(5)):e514 doi:10.1212/NXG.0000000000000514.

Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation.

Pinto de Souza C, Coelho DB, Campos DDSF, et al.

Parkinsonism & related disorders 2021; (83()):1-5 doi:10.1016/j.parkreldis.2020.12.008.

Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.

Servelhere KR, Casseb RF, de Lima FD, et al.

AJNR. American journal of neuroradiology 2021; (42(3)):610-615 doi:10.3174/ajnr.A7017.

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.

Kessler C, Serna-Higuita LM, Rattay TW, et al.

Annals of clinical and translational neurology 2021; (8(5)):1122-1131 doi:10.1002/acn3.51358.

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.

Loss of swiss cheese in Neurons Contributes to Neurodegeneration with Mitochondria Abnormalities, Reactive Oxygen Species Acceleration and Accumulation of Lipid Droplets in Drosophila Brain.

Melentev PA, Ryabova EV, Surina NV, et al.

International journal of molecular sciences 2021; (22(15)) doi:10.3390/ijms22158275.

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.

A Randomized Controlled Trial of the Effect of Repetitive Transcranial Magnetic Stimulation of the Motor Cortex on Lower Extremity Spasticity in Hereditary Spastic Paraplegia.

Bastani PB, Kordjazi M, Oveisgharan S, Abdi S

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2023; (40(2)):173-179 doi:10.1097/WNP.0000000000000874.

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.

Hereditary Spastic Paraplegia: An Update.

Meyyazhagan A, Orlacchio A

International journal of molecular sciences 2022; (23(3)) doi:10.3390/ijms23031697.

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.

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.

Sleep Dysfunction in Movement Disorders: a Window to the Disease Biology.

Standlee J, Malkani R

Current neurology and neuroscience reports 2022; (22(9)):565-576 doi:10.1007/s11910-022-01220-8.

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.

Meyyazhagan A, Kuchi Bhotla H, Pappuswamy M, Orlacchio A

International journal of molecular sciences 2022; (23(14)) doi:10.3390/ijms23147665.

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.

Wang J, Fang F, Ding C, et al.

Developmental medicine and child neurology 2023; (65(3)):416-423 doi:10.1111/dmcn.15385.

Rehabilitation of Airway Protection in Individuals With Movement Disorders: A Telehealth Feasibility Study.

Sevitz JS, Borders JC, Dakin AE, et al.

American journal of speech-language pathology 2022; (31(6)):2741-2758 doi:10.1044/2022_AJSLP-22-00063.

Pathomechanisms of depression in multiple system atrophy.

Jellinger KA

Journal of neural transmission (Vienna, Austria : 1996) 2023; (130(1)):1-6 doi:10.1007/s00702-022-02560-y.

Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia.

Arpa Gutiérrez FJ, Abenza Abildúa MJ, Rouco Axpe I, et al.

Neurologia 2024; (39(6)):515-522 doi:10.1016/j.nrleng.2022.02.002.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

DU J

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022; (47(12)):1729-1732 doi:10.11817/j.issn.1672-7347.2022.190651.

The interconnection of endoplasmic reticulum and microtubule and its implication in Hereditary Spastic Paraplegia.

Wang X, Fan C, Liu Y, Zou Y

Computational and structural biotechnology journal 2023; (21()):1670-1677 doi:10.1016/j.csbj.2023.02.025.

Online monitoring of focal spasticity treatment with botulinum toxin in people with chronic stroke or hereditary spastic paraplegia: a feasibility study.

Kerstens HCJW, Nijkrake MJ, De Swart BJM, et al.

Journal of rehabilitation medicine 2023; (55()):jrm00383 doi:10.2340/jrm.v55.6572.

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.

Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.

Chojdak-Łukasiewicz J, Sulima K, Zimny A, et al.

International journal of molecular sciences 2023; (24(24)) doi:10.3390/ijms242417530.

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.

Awuah WA, Tan JK, Shkodina AD, et al.

SAGE open medicine 2024; (12()):20503121231221941 doi:10.1177/20503121231221941.

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.

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Brankovic M, Ivanovic V, Basta I, et al.

Neurogenetics 2024; (25(3)):165-177 doi:10.1007/s10048-024-00755-x.

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.

Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia.

Kavishwar M, Bisen P, Baheti S, Wade P

BMJ case reports 2024; (17(12)) doi:10.1136/bcr-2024-260342.

Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report.

Bhopatkar SB, Huang J

Journal of investigative medicine high impact case reports 2025; (13()):23247096251323173 doi:10.1177/23247096251323173.

Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.

Salari M, Hojjatipour F, Etemadifar M, Soleimani S

Neurology. Genetics 2025; (11(2)):e200250 doi:10.1212/NXG.0000000000200250.

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.

The cognitive profile of hereditary spastic paraplegia: a systematic review of the literature.

Quinzi A, Capogna E, Guidi L, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(12)):6393-6416 doi:10.1007/s10072-025-08408-z.

Intracerebroventricular SPAST-AAV9 gene therapy prevents manifestation of symptoms in a mouse model of SPG4 hereditary spastic paraplegia.

Piermarini E, Guha S, Qiang L, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2026; (34(3)):1729-1742 doi:10.1016/j.ymthe.2025.11.029.

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Agianda HAP, Alecu JE, Tam A, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(3)):785-791 doi:10.1002/mds.70142.

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.

Association of spinal cord structure with cognition in hereditary spastic paraplegia type 5.

Chen X, Lin K, Qiu L, et al.

Frontiers in neurology 2025; (16()):1639011 doi:10.3389/fneur.2025.1639011.

An MRI-based radiomics model for precision subtyping of hereditary spastic paraplegia: discriminating SPG4 from SPG5.

Huang Z, Zhang F, Yuan L, et al.

Neuroradiology 2026; doi:10.1007/s00234-026-04064-y.