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Spastic paraplegia type 7

MedGen UID:
777978
Concept ID:
C3711370
Disease or Syndrome
Synonyms: Hereditary Spastic Paraplegia, Paraplegin Type; Spastic Paraplegia 7; Spastic Paraplegia Type 7
SNOMED CT: Spastic paraplegia type 7 (715776003)

Definition

A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. [from SNOMEDCT_US]

Professional guidelines

PubMed

van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Brain 2012 Oct;135(Pt 10):2994-3004. Epub 2012 Sep 10 doi: 10.1093/brain/aws224. PMID: 22964162

Recent clinical studies

Etiology

Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S
Mov Disord 2024 Aug;39(8):1343-1351. Epub 2024 Jun 7 doi: 10.1002/mds.29871. PMID: 38847051
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A
Mov Disord 2019 Oct;34(10):1547-1561. Epub 2019 Aug 21 doi: 10.1002/mds.27812. PMID: 31433872
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A
Neurology 2019 Jun 4;92(23):e2679-e2690. Epub 2019 May 8 doi: 10.1212/WNL.0000000000007606. PMID: 31068484Free PMC Article
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Brain 2012 Oct;135(Pt 10):2994-3004. Epub 2012 Sep 10 doi: 10.1093/brain/aws224. PMID: 22964162

Diagnosis

Seo Y, Lim HT, Lee BJ, Han J
Am J Med Genet A 2023 Feb;191(2):582-585. Epub 2022 Nov 11 doi: 10.1002/ajmg.a.63037. PMID: 36367250
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM
Eur J Neurol 2016 Apr;23(4):763-71. Epub 2016 Jan 12 doi: 10.1111/ene.12937. PMID: 26756429
Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C
PLoS One 2014;9(1):e86340. Epub 2014 Jan 22 doi: 10.1371/journal.pone.0086340. PMID: 24466038Free PMC Article
de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP
Neurology 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. PMID: 23033504

Prognosis

Bellini G, Del Prete E, Unti E, Frosini D, Siciliano G, Ceravolo R
BMC Neurol 2021 Aug 25;21(1):328. doi: 10.1186/s12883-021-02345-y. PMID: 34433436Free PMC Article
Liu Y, Xu J, Tao W, Fu C, Liu J, Yu R, Zhang X
Eur Neurol 2019;81(1-2):87-93. Epub 2019 May 22 doi: 10.1159/000500672. PMID: 31117107
Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H
BMC Neurol 2018 Nov 29;18(1):196. doi: 10.1186/s12883-018-1199-9. PMID: 30497413Free PMC Article

Clinical prediction guides

Scaravilli A, Gabusi I, Mari G, Battocchio M, Bosticardo S, Schiavi S, Bender B, Kessler C, Brais B, La Piana R, van de Warrenburg BP, Cosottini M, Timmann D; PROSPAX Consortium, Daducci A, Schüle R, Synofzik M, Santorelli FM, Cocozza S
J Neurol 2024 Aug;271(8):5468-5477. Epub 2024 Jun 16 doi: 10.1007/s00415-024-12505-y. PMID: 38880819Free PMC Article
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A
Mov Disord 2019 Oct;34(10):1547-1561. Epub 2019 Aug 21 doi: 10.1002/mds.27812. PMID: 31433872
Liu Y, Xu J, Tao W, Fu C, Liu J, Yu R, Zhang X
Eur Neurol 2019;81(1-2):87-93. Epub 2019 May 22 doi: 10.1159/000500672. PMID: 31117107
Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H
BMC Neurol 2018 Nov 29;18(1):196. doi: 10.1186/s12883-018-1199-9. PMID: 30497413Free PMC Article
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Brain 2012 Oct;135(Pt 10):2994-3004. Epub 2012 Sep 10 doi: 10.1093/brain/aws224. PMID: 22964162

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