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)
Descriptor ID |
D015419
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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
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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
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
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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 this website by year, and whether "Spastic Paraplegia, Hereditary" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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1994 | 1 | 0 | 1 |
1996 | 1 | 0 | 1 |
2000 | 1 | 0 | 1 |
2003 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2020 | 1 | 0 | 1 |
2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Spastic Paraplegia, Hereditary" by people in Profiles.
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Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia. Biochim Biophys Acta Mol Basis Dis. 2024 10; 1870(7):167348.
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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. J Appl Genet. 2020 May; 61(2):213-218.
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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb; 82(2):510-5.
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Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J Med Genet. 2003 Sep; 40(9):e106.
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Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology. 2000 Nov 14; 55(9):1388-90.
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Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am J Med Genet. 1997 Feb 21; 74(1):26-36.
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Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 1996 Jun; 46(6):1507-14.
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Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet. 1994 Aug; 3(8):1263-7.
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Familial spastic paraparesis syndrome associated with HTLV-I infection. N Engl J Med. 1990 Sep 13; 323(11):732-7.