Research & Literature

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, et al.

Brain : a journal of neurology 2015; (138(Pt 8)):2191-205 doi:10.1093/brain/awv143.

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.

Pedroso JL, de Souza PV, Pinto WB, et al.

Parkinsonism & related disorders 2015; (21(10)):1243-6.

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.

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.

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

Tomaselli PJ, Rossor AM, Horga A, et al.

Journal of the peripheral nervous system : JPNS 2017; (22(4)):460-463 doi:10.1111/jns.12235.

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.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Newton T, Allison R, Edgar JR, et al.

Brain : a journal of neurology 2018; (141(5)):1286-1299 doi:10.1093/brain/awy034.

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Marelli C, Hamel C, Quiles M, et al.

Neurology. Genetics 2018; (4(2)):e225 doi:10.1212/NXG.0000000000000225.

Serum neurofilament light chain is increased in hereditary spastic paraplegias.

Wilke C, Rattay TW, Hengel H, et al.

Annals of clinical and translational neurology 2018; (5(7)):876-882 doi:10.1002/acn3.583.

Functional differences of short and long isoforms of spastin harboring missense mutation.

Plaud C, Joshi V, Kajevu N, et al.

Disease models & mechanisms 2018; (11(9)) doi:10.1242/dmm.033704.

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar M, Shukla A, Nampoothiri S, et al.

Journal of human genetics 2019; (64(1)):17-21 doi:10.1038/s10038-018-0523-y.

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.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

Miyabayashi T, Ochiai T, Suzuki N, et al.

Journal of human genetics 2019; (64(2)):171-176 doi:10.1038/s10038-018-0538-4.

A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia.

Qiu Y, Zhong S, Cong L, et al.

Annals of clinical and translational neurology 2018; (5(11)):1415-1420 doi:10.1002/acn3.650.

"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.

[Common forms of hereditary spastic paraplegias].

Rudenskaya GE, Kadnikova VA, Ryzhkova OP

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2019; (119(2)):94-104 doi:10.17116/jnevro201911902194.

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.

Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.

Zhou H, Lei X, Yan Y, et al.

JCI insight 2019; (5()).

The Effect of Repetitive Transcranial Magnetic Stimulation on Motor Symptoms in Hereditary Spastic Paraplegia.

Antczak J, Pera J, Dąbroś M, et al.

Neural plasticity 2019; (2019()):7638675 doi:10.1155/2019/7638675.

Serum neurofilament light chain at time of diagnosis is an independent prognostic factor of survival in amyotrophic lateral sclerosis.

Thouvenot E, Demattei C, Lehmann S, et al.

European journal of neurology 2020; (27(2)):251-257 doi:10.1111/ene.14063.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Pennings M, Schouten MI, van Gaalen J, et al.

European journal of human genetics : EJHG 2020; (28(1)):40-49 doi:10.1038/s41431-019-0497-z.

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.

Structure of spastin bound to a glutamate-rich peptide implies a hand-over-hand mechanism of substrate translocation.

Han H, Schubert HL, McCullough J, et al.

The Journal of biological chemistry 2020; (295(2)):435-443 doi:10.1074/jbc.AC119.009890.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Ishihara S, Okamoto Y, Tanabe H, et al.

Journal of the peripheral nervous system : JPNS 2020; (25(2)):125-131 doi:10.1111/jns.12369.

KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity.

Liu M, Pi H, Xi Y, et al.

Autophagy 2021; (17(4)):903-924 doi:10.1080/15548627.2020.1739444.

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.

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Khani M, Shamshiri H, Fatehi F, et al.

Molecular genetics & genomic medicine 2020; (8(7)):e1240 doi:10.1002/mgg3.1240.

Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.

Tanti M, Cairns D, Mirza N, et al.

Neurogenetics 2020; (21(4)):305-308 doi:10.1007/s10048-020-00619-0.

Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation.

Lin JZ, Zheng HH, Ma QL, et al.

Frontiers in neurology 2020; (11()):399 doi:10.3389/fneur.2020.00399.

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.

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.

SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis.

Jin Y, Tan Y, Zhao P, Ren Z

International journal of molecular sciences 2020; (21(21)) doi:10.3390/ijms21218208.

Importance of lipids for upper motor neuron health and disease.

Gunay A, Shin HH, Gozutok O, et al.

Seminars in cell & developmental biology 2021; (112()):92-104 doi:10.1016/j.semcdb.2020.11.004.

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.

A Nepalese family with an REEP2 mutation: clinical and genetic study.

Nan H, Takaki R, Hata T, et al.

Journal of human genetics 2021; (66(7)):749-752 doi:10.1038/s10038-020-00882-x.

Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy.

Wang Z, Dong H, Ji X, et al.

Journal of clinical laboratory analysis 2021; (35(6)):e23772 doi:10.1002/jcla.23772.

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.

The Upper Motor Neuron-Improved Knowledge from ALS and Related Clinical Disorders.

Menon P, Vucic S

Brain sciences 2021; (11(8)) doi:10.3390/brainsci11080958.

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.

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.

Spagnoli C, Schiavoni S, Rizzi S, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021; (94()):281-285 doi:10.1016/j.jocn.2021.10.026.

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.

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.

Baron DM, Fenton AR, Saez-Atienzar S, et al.

Cell reports 2022; (39(1)):110598 doi:10.1016/j.celrep.2022.110598.

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.

Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.

Fu J, Ma M, Li G, Zhang J

Frontiers in genetics 2022; (13()):859688 doi:10.3389/fgene.2022.859688.

Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Sáenz-Farret M, Lang AE, Kalia L, et al.

Movement disorders clinical practice 2022; (9(4)):522-529 doi:10.1002/mdc3.13437.

Role of Seipin in Human Diseases and Experimental Animal Models.

Li Y, Yang X, Peng L, et al.

Biomolecules 2022; (12(6)) doi:10.3390/biom12060840.

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.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Parodi L, Barbier M, Jacoupy M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(11)):2308-2317 doi:10.1016/j.gim.2022.07.023.

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.

Fang SY, Chou YT, Hsu KC, et al.

Annals of clinical and translational neurology 2023; (10(3)):353-362 doi:10.1002/acn3.51724.

Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegia.

Loris E, Ollenschläger M, Greinwalder T, et al.

Annals of clinical and translational neurology 2023; (10(3)):447-452 doi:10.1002/acn3.51725.

Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia.

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

Neurology. Genetics 2023; (9(1)):e200052 doi:10.1212/NXG.0000000000200052.

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.

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.

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.

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.

Saffari A, Brechmann B, Böger C, et al.

Nature communications 2024; (15(1)):584 doi:10.1038/s41467-023-44264-1.

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.

Komaki S, Kubota A, Katsuse K, et al.

Internal medicine (Tokyo, Japan) 2024; (63(22)):3083-3086 doi:10.2169/internalmedicine.3435-23.

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.

KIF5A regulates axonal repair and time-dependent axonal transport of SFPQ granules and mitochondria in human motor neurons.

Guerra San Juan I, Brunner JW, Eggan K, et al.

Neurobiology of disease 2025; (204()):106759 doi:10.1016/j.nbd.2024.106759.

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.

A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.

Mitsutake A, Kawai M, Orimo K, et al.

Cerebellum (London, England) 2024; (24(1)):20 doi:10.1007/s12311-024-01782-y.

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis.

Ribeiro MO, Oliveira M, Nogueira V, et al.

Cell communication and signaling : CCS 2025; (23(1)):10 doi:10.1186/s12964-024-02007-9.

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.

A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52).

Niyoyita S, Uwibambe E, Ndinkabandi J, et al.

Genes 2025; (16(5)) doi:10.3390/genes16050542.

Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging.

González-Salazar C, Pimentel-Silva LR, Rezende TJR, et al.

Journal of neurology 2025; (272(9)):557 doi:10.1007/s00415-025-13251-5.

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.

The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.

Schito P, Domi T, Russo T, et al.

Journal of neurology 2025; (272(12)):780 doi:10.1007/s00415-025-13525-y.

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.

Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.

Sobanska A, Sulek A, Stepniak I, et al.

BMC neurology 2026; (26(1)):74 doi:10.1186/s12883-025-04624-4.

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.

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.

Cognitive impairment in hereditary spastic paraparesis: An overlooked aspect of a motor disorder.

Falcone GMI, Bonanno L, Graceffa AMS, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(2)):199 doi:10.1007/s10072-026-08830-x.