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Spastic paraplegia-Paget disease of bone syndrome

MedGen UID:
1388986
•Concept ID:
C4511969
•
Disease or Syndrome
Synonyms: Spastic paraplegia with Paget disease of bone syndrome; spastic paraplegia-Paget disease of bone syndrome
SNOMED CT: Spastic paraplegia with Paget disease of bone syndrome (726622002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018005
Orphanet: ORPHA329475

Definition

An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Spastic paraplegia-Paget disease of bone syndrome

Professional guidelines

PubMed

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW
Clin Genet 2022 May;101(5-6):530-540. Epub 2022 Apr 12 doi: 10.1111/cge.14132. PMID: 35322404Free PMC Article
Pharmacological management of pain in patients with multiple sclerosis.
Solaro C, Messmer Uccelli M
Drugs 2010 Jul 9;70(10):1245-54. doi: 10.2165/11537930-000000000-00000. PMID: 20568832
Nonendoscopic Nd-YAG 1064 nm PLDN in the treatment of thoracic discogenic pain syndromes.
Hellinger J, Stern S, Hellinger S
J Clin Laser Med Surg 2003 Apr;21(2):61-6. doi: 10.1089/104454703765035475. PMID: 12737645

Recent clinical studies

Etiology

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F
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Defining the progeria phenome.
Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M
Aging (Albany NY) 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. PMID: 38345566Free PMC Article
Diagnostic and severity scores for Cockayne syndrome.
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Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427
Cretinism revisited.
Chen ZP, Hetzel BS
Best Pract Res Clin Endocrinol Metab 2010 Feb;24(1):39-50. doi: 10.1016/j.beem.2009.08.014. PMID: 20172469

Diagnosis

Defining the progeria phenome.
Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M
Aging (Albany NY) 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. PMID: 38345566Free PMC Article
Tropical spastic paraparesis.
Román GC
Handb Clin Neurol 2023;196:149-156. doi: 10.1016/B978-0-323-98817-9.00026-0. PMID: 37620067
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ
Curr Opin Hematol 2023 Jul 1;30(4):144-151. Epub 2023 Apr 25 doi: 10.1097/MOH.0000000000000766. PMID: 37254856Free PMC Article
Hereditary Myelopathies.
Hedera P
Continuum (Minneap Minn) 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. PMID: 29613898
Cretinism revisited.
Chen ZP, Hetzel BS
Best Pract Res Clin Endocrinol Metab 2010 Feb;24(1):39-50. doi: 10.1016/j.beem.2009.08.014. PMID: 20172469

Therapy

A systematic review of complications following selective dorsal rhizotomy in cerebral palsy.
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Stiff Person Syndrome.
Saigal R, Goyal L, Yadav R, Agrawal A, Mital P, Patel B
J Assoc Physicians India 2015 Aug;63(8):81-2. PMID: 27604442
Pharmacological management of pain in patients with multiple sclerosis.
Solaro C, Messmer Uccelli M
Drugs 2010 Jul 9;70(10):1245-54. doi: 10.2165/11537930-000000000-00000. PMID: 20568832
Iodine supplementation and the prevention of cretinism.
Dunn JT
Ann N Y Acad Sci 1993 Mar 15;678:158-68. doi: 10.1111/j.1749-6632.1993.tb26119.x. PMID: 8494259
Stiff-man syndrome updated.
Lorish TR, Thorsteinsson G, Howard FM Jr
Mayo Clin Proc 1989 Jun;64(6):629-36. doi: 10.1016/s0025-6196(12)65339-7. PMID: 2664359

Prognosis

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
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
Am J Hum Genet 2023 Dec 7;110(12):2103-2111. Epub 2023 Nov 3 doi: 10.1016/j.ajhg.2023.10.009. PMID: 37924809Free PMC Article
Diagnostic and severity scores for Cockayne syndrome.
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA
J Pediatr 2021 Mar;230:55-61.e4. Epub 2020 Sep 21 doi: 10.1016/j.jpeds.2020.09.038. PMID: 32971146
The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.
Rafi SK, Butler MG
Int J Mol Sci 2020 May 6;21(9) doi: 10.3390/ijms21093296. PMID: 32384786Free PMC Article
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Neurogenetics 2017 Dec;18(4):185-194. Epub 2017 Aug 26 doi: 10.1007/s10048-017-0520-x. PMID: 28842795Free PMC Article

Clinical prediction guides

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F
Genes (Basel) 2024 Apr 18;15(4) doi: 10.3390/genes15040508. PMID: 38674442Free PMC Article
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
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
Am J Hum Genet 2023 Dec 7;110(12):2103-2111. Epub 2023 Nov 3 doi: 10.1016/j.ajhg.2023.10.009. PMID: 37924809Free PMC Article
Diagnostic and severity scores for Cockayne syndrome.
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM
J Inherit Metab Dis 2015 Jan;38(1):19-40. Epub 2014 Nov 21 doi: 10.1007/s10545-014-9776-6. PMID: 25413954
Disc degeneration-related clinical phenotypes.
Battié MC, Lazáry A, Fairbank J, Eisenstein S, Heywood C, Brayda-Bruno M, Varga PP, McCall I
Eur Spine J 2014 Jun;23 Suppl 3:S305-14. Epub 2013 Jul 25 doi: 10.1007/s00586-013-2903-5. PMID: 23884550

Recent systematic reviews

A systematic review of complications following selective dorsal rhizotomy in cerebral palsy.
Mishra D, Barik S, Raj V, Kandwal P
Neurochirurgie 2023 May;69(3):101425. Epub 2023 Feb 23 doi: 10.1016/j.neuchi.2023.101425. PMID: 36828056

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