ReviewBrain : a journal of neurology2020
Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.
Review in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 41 citations in OpenAlex.
- Hereditary spastic paraplegia (HSP) gene 11 (Spg11) attenuates lipid accumulation in myeloid cells and neuroinflammation in the midbrain without affecting α-synuclein pathology.Journal of neuroinflammation · 2026Article
- MUDENG, a component of adaptor complex 5, mediates TRAIL- and TMZ-triggered apoptosis in glioblastoma (GBM) via multiple pathways.Apoptosis : an international journal on programmed cell death · 2026Article
- Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report.Journal of medical case reports · 2025Article
- Genomic Structural Equation Modelling Reveals the Shared Genetic Architecture for Oral Frailty.Oral health & preventive dentistry · 2025Article
- Nutritional Approaches in Neurodegenerative Disorders: A Mini Scoping Review with Emphasis on SPG11-Related Conditions.Nutrients · 2025Article
- Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.Neurogenetics · 2025Article
- Microglia and CD8+ T cell activation precede neuronal loss in a murine model of spastic paraplegia 15.The Journal of experimental medicine · 2025Article
- Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025Article
- Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment.Scientific reports · 2025Article
- Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.Molecular genetics & genomic medicine · 2024Article
- Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11.Frontiers in neuroscience · 2024Article
- A role for mutations inProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.International journal of molecular sciences · 2023Article
- Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Article
- Clinical analysis in patients withFrontiers in neurology · 2023Article
- Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.Movement disorders clinical practice · 2023Review
- Article
- Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.Orphanet journal of rare diseases · 2022Article
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.Autophagy · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron disorders characterized by progressive weakness and spasticity of the lower limbs. HSP type 11 (SPG11-HSP) is linked to pathogenic variants in the SPG11 gene and it represents the most frequent form of complex autosomal recessive HSP. The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum, and peripheral neuropathy. Yet, the mechanisms of SPG11-linked spectrum diseases are largely unknown. Recent findings indicate that spatacsin, the 280 kDa protein encoded by SPG11, may impact the autophagy-lysosomal machinery. In this update, we summarize the current knowledge of SPG11-HSP. In addition to clinical symptoms and differential diagnosis, our work aims to link the different clinical manifestations with the respective structural abnormalities and cellular in vitro phenotypes. Moreover, we describe the impact of localization and function of spatacsin in different neuronal systems. Ultimately, we propose a model in which spatacsin bridges between neurodevelopmental and neurodegenerative phenotypes of SPG11-linked disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.