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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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)

Descriptor ID	D015419
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 Motor and Sensory Neuropathy 5 Hereditary Motor And Sensory Neuropathy V Hereditary Motor-Sensory Neuropathy with Pyramidal Signs Hereditary Motor Sensory Neuropathy with Pyramidal Signs Hereditary Spastic Paraplegia Type V Hereditary Motor and Sensory Neuropathy HMSN Type V Type V, HMSN HMSN V HMSN V (Hereditary Motor and Sensory Neuropathy Type V) Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Paraplegia, Spastic, Hereditary Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy CMT with Pyramidal Features HMSN 5 X-Linked, Spastic Paraplegia, Hereditary X-Linked, Spastic Paraplegia, Hereditary Hereditary X-Linked Recessive Spastic Paraplegia Hereditary X-Linked Recessive Spastic Paraplegia Hereditary X Linked Recessive Spastic Paraplegia Spastic Paraplegia 2 X-linked Recessive Hereditary Spastic Paraplegia Spastic Paraplegia, Hereditary, X-Linked Recessive Spastic Paraplegia, X-Linked Recessive, Hereditary X Linked Recessive Hereditary Spastic Paraplegia Hereditary, Spastic Paraplegia, X-Linked Recessive Spastic Paraplegia Type 2 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 Spastic Paraplegia, Hereditary, Autosomal Dominant Hereditary, Spastic Paraplegia, Autosomal Dominant Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant Spastic Paraplegia, Autosomal Dominant, Hereditary Autosomal Dominant Hereditary Spastic Paraplegia Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant

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 related to "Spastic Paraplegia, Hereditary".

Below are MeSH descriptors whose meaning is more specific than "Spastic Paraplegia, Hereditary".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Spastic Paraplegia, Hereditary" by people in this website by year, and whether "Spastic Paraplegia, Hereditary" was a major or minor topic of these publications.

Bar chart showing 7 publications over 6 distinct years, with a maximum of 2 publications in 2025

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2009	1	0	1
2010	0	1	1
2020	1	0	1
2021	1	0	1
2022	1	0	1
2025	2	0	2

Below are the most recent publications written about "Spastic Paraplegia, Hereditary" by people in Profiles.

Piermarini E, Guha S, Qiang L, Gray-Edwards H, Sena-Esteves M, Baas PW. Intracerebroventricular SPAST-AAV9 gene therapy prevents manifestation of symptoms in a mouse model of SPG4 hereditary spastic paraplegia. Mol Ther. 2026 Mar 04; 34(3):1729-1742.

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Dulski J, Boddapati AK, Risi B, Iruzubieta P, Orlacchio A, Fern?ndez-Torr?n R, Castillo-Trivi?o T, L?pez de Munain A, Vucic S, Padovani A, Kaat LD, Barakat TS, Petrucelli L, Prudencio M, Landers JE, Weishaupt JH, Prokop A, Filosto M, Wszolek ZK, Pant DC. Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders. HGG Adv. 2026 Jan 15; 7(1):100498.

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Chen Y, Krishnan G, Parsi S, Pons M, Nikolaki V, Cao L, Xu Z, Gao FB. 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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Yang H, Brown RH, Wang D, Strauss KA, Gao G. AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. Trends Mol Med. 2021 06; 27(6):520-523.

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Gaier ED, Sahai I, Wiggs JL, McGeeney B, Hoffman J, Peeler CE. Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. Ophthalmic Genet. 2019 12; 40(6):570-573.

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Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet. 2010 Oct 15; 19(20):4091-9.

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Salameh JS, Shenoy AM, David WS. Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. J Clin Neuromuscul Dis. 2009 Sep; 11(1):57-9.

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