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 11 publications over 8 distinct years, with a maximum of 3 publications in 2017

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

Year	Major Topic	Minor Topic	Total
2002	1	0	1
2007	1	0	1
2008	1	0	1
2012	2	0	2
2017	3	0	3
2019	0	1	1
2020	1	0	1
2023	1	0	1

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

Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 12 07; 110(12):2103-2111.

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Miranda M, Harmuth F, Bustamante ML, Rossi M, Sturm M, Magnusson ?T, Bauer P, Klockgether T, Ramirez A. Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. Parkinsonism Relat Disord. 2020 12; 81:45-47.

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Hurst S, Baggett A, Csordas G, Sheu SS. SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca2+ influx, and regulation of mitochondrial permeability transition pore opening. J Biol Chem. 2019 07 12; 294(28):10807-10818.

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Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW, Hsu CK, Simpson MA, McGrath JA. Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. Am J Med Genet A. 2017 Nov; 173(11):3109-3113.

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Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altm?ller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Br?stle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Sch?ls L, N?rnberg P, Zuchner S, Klockgether T, Ramirez A, Sch?le R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578.

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Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet. 2017 Feb 02; 100(2):364-370.

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Martinez-Lage M, Molina-Porcel L, Falcone D, McCluskey L, Lee VM, Van Deerlin VM, Trojanowski JQ. TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. Acta Neuropathol. 2012 Aug; 124(2):285-91.

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Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schr?der C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Sch?ls L. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Neurogenetics. 2012 Feb; 13(1):73-6.

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Bauer P, Winner B, Sch?le R, Bauer C, H?fele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Sch?ls L. Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. Neurogenetics. 2009 Feb; 10(1):43-8.

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Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol. 2007 Dec; 62(6):656-65.

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