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Hereditary spastic paraplegia 24(SPG24)

MedGen UID:
334784
•Concept ID:
C1843569
•
Disease or Syndrome
Synonyms: Spastic paraplegia 24; SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE
SNOMED CT: Autosomal recessive spastic paraplegia type 24 (785304005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011862
OMIM®: 607584
Orphanet: ORPHA101004

Definition

A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. [from SNOMEDCT_US]

Clinical features

From HPO
Clonus
MedGen UID:
40341
•Concept ID:
C0009024
•
Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
See: Feature record | Search on this feature
Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
See: Feature record | Search on this feature
Spastic paraplegia
MedGen UID:
20882
•Concept ID:
C0037772
•
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
See: Feature record | Search on this feature
Hyperreflexia
MedGen UID:
57738
•Concept ID:
C0151889
•
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
See: Feature record | Search on this feature
Tip-toe gait
MedGen UID:
98104
•Concept ID:
C0427144
•
Finding
An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
See: Feature record | Search on this feature
Difficulty standing
MedGen UID:
69136
•Concept ID:
C0241237
•
Sign or Symptom
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 24
Follow this link to review classifications for Hereditary spastic paraplegia 24 in Orphanet.

Professional guidelines

PubMed

Online monitoring of focal spasticity treatment with botulinum toxin in people with chronic stroke or hereditary spastic paraplegia: a feasibility study.
Kerstens HCJW, Nijkrake MJ, De Swart BJM, Nijhuis-van der Sanden RWG, Vos-van de Hulst M, Bos GJ, Geurts ACH, Van der Wees PJ
J Rehabil Med 2023 Apr 19;55:jrm00383. doi: 10.2340/jrm.v55.6572. PMID: 37073790Free PMC Article
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.
Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Nørremølle A, Hasholt L
Prenat Diagn 2004 May;24(5):363-6. doi: 10.1002/pd.875. PMID: 15164410
Prenatal diagnosis of hereditary spastic paraplegia.
Hedera P, Williamson JA, Rainier S, Alvarado D, Tukel T, Apak M, Fink JK
Prenat Diagn 2001 Mar;21(3):202-6. doi: 10.1002/1097-0223(200103)21:3<202::aid-pd4>3.0.co;2-u. PMID: 11260609

Recent clinical studies

Etiology

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L
Mov Disord 2024 Apr;39(4):651-662. Epub 2024 Jan 31 doi: 10.1002/mds.29728. PMID: 38291924
Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.
Chojdak-Łukasiewicz J, Sulima K, Zimny A, Waliszewska-Prosół M, Budrewicz S
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417530. PMID: 38139357Free PMC Article
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Galatolo D, Trovato R, Scarlatti A, Rossi S, Natale G, De Michele G, Barghigiani M, Cioffi E, Filla A, Bilancieri G, Casali C, Santorelli FM, Silvestri G, Tessa A
Neurogenetics 2023 Jul;24(3):147-160. Epub 2023 May 3 doi: 10.1007/s10048-023-00717-9. PMID: 37131039
Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ
Neurologia (Engl Ed) 2023 Jul-Aug;38(6):379-386. Epub 2023 Apr 28 doi: 10.1016/j.nrleng.2023.04.003. PMID: 37120112
Novel insights into the genetic profile of hereditary spastic paraplegia in India.
Narendiran S, Debnath M, Shivaram S, Kannan R, Sharma S, Christopher R, Seshagiri DV, Jain S, Purushottam M, Mangalore S, Bharath RD, Bindu PS, Sinha S, Taly AB, Nagappa M
J Neurogenet 2022 Mar;36(1):21-31. Epub 2022 May 2 doi: 10.1080/01677063.2022.2064463. PMID: 35499206

Diagnosis

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L
Mov Disord 2024 Apr;39(4):651-662. Epub 2024 Jan 31 doi: 10.1002/mds.29728. PMID: 38291924
Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ
Neurologia (Engl Ed) 2023 Jul-Aug;38(6):379-386. Epub 2023 Apr 28 doi: 10.1016/j.nrleng.2023.04.003. PMID: 37120112
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Hereditary Myelopathies.
Hedera P
Continuum (Minneap Minn) 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. PMID: 29613898

Therapy

Online monitoring of focal spasticity treatment with botulinum toxin in people with chronic stroke or hereditary spastic paraplegia: a feasibility study.
Kerstens HCJW, Nijkrake MJ, De Swart BJM, Nijhuis-van der Sanden RWG, Vos-van de Hulst M, Bos GJ, Geurts ACH, Van der Wees PJ
J Rehabil Med 2023 Apr 19;55:jrm00383. doi: 10.2340/jrm.v55.6572. PMID: 37073790Free PMC Article
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
The clinical effect of the GABA-agonist, progabide, on spasticity.
Mondrup K, Pedersen E
Acta Neurol Scand 1984 Apr;69(4):200-6. doi: 10.1111/j.1600-0404.1984.tb07802.x. PMID: 6377802

Prognosis

Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
Eckhardt M
Int J Mol Sci 2023 Mar 3;24(5) doi: 10.3390/ijms24054908. PMID: 36902339Free PMC Article
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM
Neurogenetics 2018 May;19(2):123-130. Epub 2018 Feb 8 doi: 10.1007/s10048-018-0538-8. PMID: 29423566
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.
Hirst J, Borner GH, Edgar J, Hein MY, Mann M, Buchholz F, Antrobus R, Robinson MS
Mol Biol Cell 2013 Aug;24(16):2558-69. Epub 2013 Jul 3 doi: 10.1091/mbc.E13-03-0170. PMID: 23825025Free PMC Article
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676
Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.
Brockmann K, Simpson MA, Faber A, Bönnemann C, Crosby AH, Gärtner J
Neuropediatrics 2005 Aug;36(4):274-8. doi: 10.1055/s-2005-872809. PMID: 16138254

Clinical prediction guides

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L
Mov Disord 2024 Apr;39(4):651-662. Epub 2024 Jan 31 doi: 10.1002/mds.29728. PMID: 38291924
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS
Eur J Hum Genet 2017 Aug;25(8):966-972. Epub 2017 May 10 doi: 10.1038/ejhg.2017.85. PMID: 28488683Free PMC Article
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.
Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT, Casali C, Sessa M, Copetti M, Pagani E, Comi G, Ferrari M, Falini A, Filippi M
Radiology 2015 Jul;276(1):207-18. Epub 2015 Jan 22 doi: 10.1148/radiol.14141715. PMID: 25611737

Recent systematic reviews

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676

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