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Hereditary spastic paraplegia 73(SPG73)

MedGen UID:
1800404
Concept ID:
C5568981
Disease or Syndrome
Synonym: Spastic paraplegia 73, autosomal dominant
SNOMED CT: Autosomal dominant spastic paraplegia type 73 (1187468005)
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.
 
Gene (location): CPT1C (19q13.33)
 
Monarch Initiative: MONDO:0014568
OMIM®: 616282
Orphanet: ORPHA444099

Definition

A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. [from SNOMEDCT_US]

Clinical features

From HPO
Claw toe deformity
MedGen UID:
1841785
Concept ID:
C5826373
Anatomical Abnormality
Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Impaired distal vibration sensation
MedGen UID:
381262
Concept ID:
C1853767
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Prolonged central motor conduction time
MedGen UID:
908394
Concept ID:
C4229185
Finding
Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Reduced ability to walk (ambulate).
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 73

Recent clinical studies

Etiology

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
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
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Murphy S, Gorman G, Beetz C, Byrne P, Dytko M, McMonagle P, Kinsella K, Farrell M, Hutchinson M
Neurology 2009 Aug 4;73(5):378-84. doi: 10.1212/WNL.0b013e3181b04c6c. PMID: 19652142

Diagnosis

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
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
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
Haj Salem I, Beaudin M, Stumpf M, Estiar MA, Côté PO, Brunet F, Gamache PL, Rouleau GA, Mourabit-Amari K, Gan-Or Z, Dupré N
Can J Neurol Sci 2021 Sep;48(5):655-665. Epub 2021 Jan 5 doi: 10.1017/cjn.2020.277. PMID: 33397523
Murphy S, Gorman G, Beetz C, Byrne P, Dytko M, McMonagle P, Kinsella K, Farrell M, Hutchinson M
Neurology 2009 Aug 4;73(5):378-84. doi: 10.1212/WNL.0b013e3181b04c6c. PMID: 19652142

Therapy

Meythaler JM, Steers WD, Tuel SM, Cross LL, Sesco DC, Haworth CS
Arch Phys Med Rehabil 1992 Sep;73(9):794-7. PMID: 1514885

Prognosis

Hong D, Cong L, Zhong S, Liu L, Xu Y, Zhang J
Ann Clin Transl Neurol 2019 Mar;6(3):610-614. Epub 2019 Jan 4 doi: 10.1002/acn3.717. PMID: 30911584Free PMC Article
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD
Eur J Med Genet 2017 Oct;60(10):548-552. Epub 2017 Aug 1 doi: 10.1016/j.ejmg.2017.07.015. PMID: 28778789
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article

Clinical prediction guides

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
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
Bickley C, Mitchell K, Scott A, Bury M, Oyelami M
Phys Occup Ther Pediatr 2021;41(1):99-113. Epub 2020 Sep 17 doi: 10.1080/01942638.2020.1819934. PMID: 32942942
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G
Brain 2009 Jun;132(Pt 6):1589-600. Epub 2009 May 12 doi: 10.1093/brain/awp073. PMID: 19439420

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