Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

An MSA-P patient presenting with preserved glucose metabolism in the putamen, cerebellar hypometabolism and pronounced loss of presynaptic dopamine transporter in the striatum.

Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient.

Repetitive Transcranial Magnetic Stimulation for Spasticity in Stroke and Other Neuromotor Disorders: A Systematic Review of Randomized Clinical Trials.

Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

[A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].

Phosphatidylethanolamine: Its biological significance and responses to nutritional factors for neurohealth.

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

Spastin Is Required to Prevent SPAST-Related Demyelination.

Inhibition of FicD-mediated AMPylation and deAMPylation by isoprenoid diphosphates.

Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.

Beyond motor impairment: investigating cognitive aspects of hereditary spastic paraplegia in a Greek case series.

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.

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

Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.

Structural analysis of the plant glycoside hydrolase family 116 glucosylceramidase AtGCD3 by cryogenic electron microscopy.

Rehabilitation with Intrathecal Baclofen and Gait Training Using Hybrid Assistive Limb in a Patient with Hereditary Spastic Paraplegia: A Case Report.

Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation.

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

[Analysis of a three-generation Chinese pedigree affected with Hereditary spastic paraplegia type 3A due to variant of ATL1 gene].

MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation.

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.

Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.

A multi-ancestry genetic reference for the Quebec population.

C. elegans Spastin/spas-1 Is Required for Axon Regeneration and Maintenance.

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.

A Novel AP4M1 Variant in an Iranian Child with Spastic Paraplegia 50: A Case Report and Molecular Docking Approach.

Apoptosis and motor deficits in SPG76 hereditary spastic paraplegia: Calpain 2 inhibition as therapeutic strategy.

Co-development and implementation of a group-based arm-crank exercise programme in the community for individuals with neurological impairments.

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

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

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

TFG p.G269V Mutation Disrupts Motor Neuron Function in iPSC-Derived Models via Wnt Signaling Dysregulation.

Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by ABHD16A gene variants: an integrated analysis based on novel variants and literature review.

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.

Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.

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

Serendipitous Symptom Control: Allopurinol for Spasticity in a Case of SPG4-Linked Hereditary Spastic Paraplegia-A Case Report.

Hereditary spastic paraplegia: from decades of therapy to future innovations.

Effect of an evidence-based modified developmental physiotherapy intervention on muscle tone, motor functions, and trunk control in a child with hereditary spastic paraplegia type 47: A case report.

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

Pearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.

Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum.

Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report.

Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.

Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.

Finite Element-Based Biomechanical Evaluation of Patient-Specific Insoles for a Pediatric Patient with Hereditary Spastic Paraplegia Using the Taguchi Method.

A Mutation in Vesicular Acetylcholine Transporter Increases Tubulin Acetylation Compromising Synaptic Vesicle Transport.

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

Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia.

Protrudin acts at ER-endosome contacts to promote KIF5-mediated endosomal tubule fission.

Miglustat does not impact clinical progression in patients with spastic paraplegia type 11.

Reversing Autophagy Inhibition Ameliorates Neurodegeneration in Hereditary Spastic Paraplegia Caused by a Degradation-Resistant SPAST Mutation.

A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy.

[Hereditary spastic paraplegia of type 11: towards therapeutic options].

Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity.

Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.

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

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

Autonomic profiling in SPG11 hereditary spastic paraplegia.

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.

Novel SPTAN1 variant mimicking hereditary spastic paraplegia (HSP).

Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases.

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report.

Two homozygous KIF1C variants in a Turkish family presenting with cerebellar dysfunction and spastic paraparesis with MRI findings.

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

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

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Swiss Cheese Gene Is Important for Intestinal Barrier, Microbiome, and Lipid Metabolism Regulation in Drosophila Gut.

Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

Molecular Insights into IAHSP: Influence of the R1611W Mutation on the VPS9 Domain of Alsin.

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.

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

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

DDHD2 possesses both lipase and transacylase capacities that remodel triglyceride acyl chains.

Microstructural Brain White Matter Changes and Clinical Correlates in SPG3A.

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.

LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons.

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.

[Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review].

Nutritional Approaches in Neurodegenerative Disorders: A Mini Scoping Review with Emphasis on SPG11-Related Conditions.

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.

ERLIN1: A central regulator of protein quality control, lipid homeostasis, and cellular signaling at the endoplasmic reticulum.

Lysosomal and mTORC1 signaling dysregulation underpin the pathology of spastic paraplegia type 80.

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

Small peptide P110 mitigates axonal degeneration of SPG15 patient iPSC-derived neurons by targeting mitochondrial dysfunction.

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Artificial intelligence in genomics: transforming the diagnosis of hereditary spastic paraplegia.

Role of Oxidative Stress in Human Neurodegenerative Pathologies: Lessons from the Drosophila Model.

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.

Fluid Biomarkers in Hereditary Spastic Paraplegia: A Narrative Review and Integrative Framework for Complex Neurodegenerative Mechanisms.

Botulinum Toxin Treatment in Hereditary Spastic Paraplegia-A Comprehensive Review and Update.

The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.

A Novel Frameshift Variant in the SPAST Gene Causing Hereditary Spastic Paraplegia in a Bulgarian-Turkish Family.

Hyperactivity of the non-canonical inflammasome in SPG11 and SPG48.

Endoplasmic reticulum in the axon: Insights into structural dynamics and implications in neurodegeneration.

Tubular ER dysfunction in neurodegenerative diseases.

4-Phenylbutyric Acid Improves Gait Ability of UBAP1-Related Spastic Paraplegia Mouse Model: Therapeutic Potential for SPG80.

SPG7-Associated Ataxia May Involve Peripheral Neuropathy as a Key Phenotypic Feature.

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.

Development of a Human iPSC-Derived "Corticospinal Tract-on-a-Chip" for Neurodegenerative Disease Research.

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

DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.

A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature.

An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.

Wings of Discovery: Using Drosophila to Decode Hereditary Spastic Paraplegia and Ataxias.

Dysregulation of SELENOI Is Associated with TDP-43 Neuropathology in Amyotrophic Lateral Sclerosis.

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Ziclague® (Alpinia Zerumbet oil) in patients with hereditary spastic paraplegia - the randomized controlled ZISPAST trial.

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

Evidence of Dual Molecular Diagnosis of a Young Male Patient With Hereditary Spastic Paraplegia Carrying Two Rare Autosomal Mutations.

Clinical and functional analysis of KIF5A related spastic paraplegia type 10.

Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge.

Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study.

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

The Impact of VAMP1 Mutations on Synaptic Vesicle Fusion Dynamics in Familial Spastic Disorders.

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.

Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation.

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

[A case of hereditary spastic paraplegia type 64 with ENTPD1 gene variant].

The hereditary spastic paraplegia type 21 (SPG21) protein is a RAB7A effector that promotes noncanonical mTORC1-catalyzed TFEB phosphorylation and cytoplasmic retention.

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

SPG7 p.A510V heterozygosity as a cause of adult-onset cerebellar ataxia without spasticity: longitudinal evidence from a sporadic case.

Neuroaxonal Degeneration as a Converging Mechanism in Motor Neuron Diseases (MNDs): Molecular Insights into RNA Dysregulation and Emerging Therapeutic Targets.

Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.

Efficacy of radial extracorporeal shock wave therapy in hereditary spastic paraplegia: A case report.

KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.

Genotype-Phenotype Distinctions in Spastic Paraplegia 4 Reveal HDAC6 as a Therapeutic Target.

Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.

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

Downbeat nystagmus in hereditary spastic paraplegia type 6.

When ganglioside pathways go awry: congenital disorders and experimental insights.

AAV8-based gene replacement therapy for hereditary spastic paraplegia type 5.

Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy.

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

Hereditary Spastic Paraplegia Type 7 With Early-Onset Parkinsonism Responsive to Subthalamic Deep Brain Stimulation.

Entropy, Irreversibility, and Time-Series Deep Learning of Kinematic and Kinetic Data for Gait Classification in Children with Cerebral Palsy, Idiopathic Toe Walking, and Hereditary Spastic Paraplegia.

Adaptive Torque Control of Exoskeletons Under Spasticity Conditions via Reinforcement Learning.

Implications of mitochondrial phosphatidylethanolamine in neuronal health and neurodegeneration.

The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.

Triglycerides are an important fuel reserve for synapse function in the brain.

Conformational dynamics and membrane insertion mechanism of B4GALNT1 in ganglioside synthesis.

Connecting tubules: mechanisms of endoplasmic reticulum membrane fusion.

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.

Exploring gastrocnemius medialis behavior during gait in children with cerebral palsy across different gait patterns.

Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report.

Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.

One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.

Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Unravelling axonal transcriptional landscapes: insights from induced pluripotent stem cell-derived cortical neurons and implications for motor neuron degeneration.

Outcome measures of instrumented gait analysis in hereditary spastic paraplegia: a systematic review.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.

[FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset].

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis.

Exotropia in a Patient With a Novel Homozygous 4-Hydroxyphenylpyruvate Dioxygenase-Like Protein (HPDL) Variant.

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

Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias.

Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia.

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration.

Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.

Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.

Primary Lateral Sclerosis: Implications for Diagnostic Criteria From a Natural History Study in the Netherlands.

Spastic paraplegia with short stature: Think of Troyer syndrome.

Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.

[Peripheral Nerve: Cause and Pathology of Inherited Peripheral Neuropathy].

[Genetics of Motor Neuron Diseases and Hereditary Spastic Paraplegia].

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

KIF5A variant in familial dystonia: A clinicogenetic study of a large Roma kindred.

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

UCHL1-Mediated Spastin Degradation Regulates Microtubule Severing and Hippocampal Neurite Outgrowth.

ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities.

Microglia and CD8+ T cell activation precede neuronal loss in a murine model of spastic paraplegia 15.