Spastic Paraplegia, Hereditary
"Spastic Paraplegia, Hereditary" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
MeSH Number(s)
C10.500.300.820
C10.574.500.495.820
C10.668.829.800.300.820
C16.131.666.300.820
C16.320.400.375.820
Concept/Terms
Spastic Paraplegia, Hereditary- Spastic Paraplegia, Hereditary
- Hereditary Spastic Paraplegias
- Paraplegia, Hereditary Spastic
- Paraplegias, Hereditary Spastic
- Spastic Paraplegias, Hereditary
- Hereditary Spastic Paraplegia
- HMSN Type V
- Type V, HMSN
- HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
- Hereditary Motor and Sensory Neuropathy 5
- Paraplegia, Spastic, Hereditary
- Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy
- Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy
- Type V Hereditary Motor and Sensory Neuropathy
- HMSN 5
- Hereditary Motor-Sensory Neuropathy with Pyramidal Signs
- Hereditary Motor Sensory Neuropathy with Pyramidal Signs
- Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia
- Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia- Hereditary X-Linked Recessive Spastic Paraplegia
- Hereditary X Linked Recessive Spastic Paraplegia
- X-linked Recessive Hereditary Spastic Paraplegia
- X linked Recessive Hereditary Spastic Paraplegia
- Spastic Paraplegia, X-Linked Recessive, Hereditary
- Hereditary, Spastic Paraplegia, X-Linked Recessive
- Spastic Paraplegia, Hereditary, X-Linked Recessive
Autosomal Recessive Hereditary Spastic Paraplegia- Autosomal Recessive Hereditary Spastic Paraplegia
- Spastic Paraplegia, Hereditary, Autosomal Recessive
- Hereditary Spastic Paraplegia, Autosomal Recessive
- Spastic Paraplegia, Autosomal Recessive, Hereditary
- Autosomal Recessive Spastic Paraplegia, Hereditary
- Hereditary Autosomal Recessive Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia- Hereditary Autosomal Dominant Spastic Paraplegia
- Autosomal Dominant Spastic Paraplegia Hereditary
- Hereditary, Spastic Paraplegia, Autosomal Dominant
- Spastic Paraplegia, Hereditary, Autosomal Dominant
- Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant
- Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant
- Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant
- Autosomal Dominant Hereditary Spastic Paraplegia
- Spastic Paraplegia, Autosomal Dominant, Hereditary
Below are MeSH descriptors whose meaning is more general than "Spastic Paraplegia, Hereditary".
- Diseases [C]
- Nervous System Diseases [C10]
- Nervous System Malformations [C10.500]
- Hereditary Sensory and Motor Neuropathy [C10.500.300]
- Spastic Paraplegia, Hereditary [C10.500.300.820]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Hereditary Sensory and Motor Neuropathy [C10.574.500.495]
- Spastic Paraplegia, Hereditary [C10.574.500.495.820]
- Neuromuscular Diseases [C10.668]
- Peripheral Nervous System Diseases [C10.668.829]
- Polyneuropathies [C10.668.829.800]
- Hereditary Sensory and Motor Neuropathy [C10.668.829.800.300]
- Spastic Paraplegia, Hereditary [C10.668.829.800.300.820]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Nervous System Malformations [C16.131.666]
- Hereditary Sensory and Motor Neuropathy [C16.131.666.300]
- Spastic Paraplegia, Hereditary [C16.131.666.300.820]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Hereditary Sensory and Motor Neuropathy [C16.320.400.375]
- Spastic Paraplegia, Hereditary [C16.320.400.375.820]
Below are MeSH descriptors whose meaning is more specific than "Spastic Paraplegia, Hereditary".
This graph shows the total number of publications written about "Spastic Paraplegia, Hereditary" by people in Harvard Catalyst Profiles by year, and whether "Spastic Paraplegia, Hereditary" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1998 | 2 | 0 | 2 |
2003 | 1 | 0 | 1 |
2005 | 3 | 0 | 3 |
2006 | 0 | 1 | 1 |
2007 | 0 | 1 | 1 |
2008 | 1 | 0 | 1 |
2009 | 2 | 0 | 2 |
2010 | 1 | 3 | 4 |
2011 | 3 | 0 | 3 |
2012 | 4 | 0 | 4 |
2013 | 2 | 1 | 3 |
2014 | 4 | 0 | 4 |
2015 | 1 | 1 | 2 |
2016 | 2 | 0 | 2 |
2017 | 3 | 1 | 4 |
2018 | 6 | 0 | 6 |
2019 | 2 | 1 | 3 |
2020 | 9 | 0 | 9 |
2021 | 6 | 0 | 6 |
2022 | 11 | 0 | 11 |
2023 | 8 | 0 | 8 |
2024 | 1 | 0 | 1 |
Below are the most recent publications written about "Spastic Paraplegia, Hereditary" by people in Profiles.
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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Nat Commun. 2024 Jan 17; 15(1):584.
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Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Mov Disord. 2023 09; 38(9):1742-1750.
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The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets. Nat Cell Biol. 2023 08; 25(8):1101-1110.
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Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. J Clin Invest. 2023 05 15; 133(10).
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015.
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Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2023 05; 38(5):911-913.
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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435.
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Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients. Orphanet J Rare Dis. 2023 04 06; 18(1):72.
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De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Hum Mol Genet. 2023 01 01; 32(1):93-103.
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Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. Clin Genet. 2023 03; 103(3):346-351.