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
|
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
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 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.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1998 | 1 | 0 | 1 |
2002 | 1 | 0 | 1 |
2003 | 1 | 0 | 1 |
2004 | 0 | 1 | 1 |
2008 | 1 | 0 | 1 |
2011 | 1 | 0 | 1 |
2013 | 1 | 0 | 1 |
2014 | 1 | 0 | 1 |
2017 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2020 | 2 | 0 | 2 |
2022 | 2 | 0 | 2 |
2023 | 2 | 0 | 2 |
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click here.
Below are the most recent publications written about "Spastic Paraplegia, Hereditary" by people in Profiles.
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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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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435.
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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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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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Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia. Clin Genet. 2021 03; 99(3):477-480.
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Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain. 2020 09 01; 143(9):e76.
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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet. 2020 08 06; 107(2):364-373.
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Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 03; 41(3):632-640.
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Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia. Hum Mutat. 2020 02; 41(2):412-419.
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SPG7 and Impaired Emotional Communication. Cerebellum. 2017 04; 16(2):595-598.