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 |
|---|
| 1998 | 2 | 0 | 2 |
| 2003 | 2 | 0 | 2 |
| 2005 | 2 | 0 | 2 |
| 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 | 3 | 0 | 3 |
| 2017 | 3 | 2 | 5 |
| 2018 | 6 | 0 | 6 |
| 2019 | 2 | 1 | 3 |
| 2020 | 8 | 0 | 8 |
| 2021 | 6 | 0 | 6 |
| 2022 | 11 | 0 | 11 |
| 2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Spastic Paraplegia, Hereditary" by people in Profiles.
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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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The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias. Acta Neuropathol Commun. 2022 11 22; 10(1):169.
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Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons. Brain. 2022 11 21; 145(11):4016-4031.
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Importance of genetic testing for childhood-onset hereditary spastic paraplegia. Dev Med Child Neurol. 2023 03; 65(3):307-308.
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Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446.
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Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons. Hum Mol Genet. 2022 08 23; 31(16):2779-2795.
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Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. Am J Med Genet A. 2022 09; 188(9):2590-2598.
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain. 2022 04 29; 145(3):1029-1037.
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Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia. Acta Neuropathol Commun. 2022 03 28; 10(1):40.