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Hereditary spastic paraplegia 42(SPG42)

MedGen UID:
393407
Concept ID:
C2675528
Disease or Syndrome
Synonyms: Spastic Paraplegia 42; Spastic paraplegia 42, autosomal dominant
SNOMED CT: Autosomal dominant spastic paraplegia type 42 (763070001)
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): SLC33A1 (3q25.31)
 
Monarch Initiative: MONDO:0012928
OMIM®: 612539
Orphanet: ORPHA171863

Definition

A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. [from SNOMEDCT_US]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
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.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
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 42
Follow this link to review classifications for Hereditary spastic paraplegia 42 in Orphanet.

Professional guidelines

PubMed

van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799Free PMC Article
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium
J Neurol 2023 Mar;270(3):1702-1712. Epub 2022 Dec 14 doi: 10.1007/s00415-022-11505-0. PMID: 36515702Free PMC Article

Recent clinical studies

Etiology

van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799Free PMC Article
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
Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr
AJNR Am J Neuroradiol 2021 Mar;42(3):610-615. Epub 2021 Jan 21 doi: 10.3174/ajnr.A7017. PMID: 33478946Free PMC Article
Murala S, Nagarajan E, Bollu PC
Neurol Sci 2021 Mar;42(3):883-894. Epub 2021 Jan 13 doi: 10.1007/s10072-020-04981-7. PMID: 33439395
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Diagnosis

Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, Ruggieri A, Maggi L
Acta Myol 2023;42(1):2-13. Epub 2023 Mar 31 doi: 10.36185/2532-1900-244. PMID: 37091525Free PMC Article
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Murala S, Nagarajan E, Bollu PC
Neurol Sci 2021 Mar;42(3):883-894. Epub 2021 Jan 13 doi: 10.1007/s10072-020-04981-7. PMID: 33439395
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Therapy

Tu Y, Liu Y, Fan S, Weng J, Li M, Zhang F, Fu Y, Hu J
Eur J Neurol 2024 Aug;31(8):e16310. Epub 2024 Apr 23 doi: 10.1111/ene.16310. PMID: 38651515Free PMC Article
van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799Free PMC Article
Margetis K, Korfias S, Boutos N, Gatzonis S, Themistocleous M, Siatouni A, Dalivigka Z, Flaskas T, Stranjalis G, Boviatsis E, Sakas D
Clin Neurol Neurosurg 2014 Aug;123:142-5. Epub 2014 Jun 4 doi: 10.1016/j.clineuro.2014.05.024. PMID: 24973568
Bushman W, Steers WD, Meythaler JM
Neurourol Urodyn 1993;12(2):163-70. doi: 10.1002/nau.1930120210. PMID: 7920673

Prognosis

van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799Free PMC Article
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Osmanovic A, Widjaja M, Förster A, Weder J, Wattjes MP, Lange I, Sarikidi A, Auber B, Raab P, Christians A, Preller M, Petri S, Weber RG
J Neurol 2020 Sep;267(9):2732-2743. Epub 2020 May 23 doi: 10.1007/s00415-020-09861-w. PMID: 32447552Free PMC Article
Kerstens HCJW, Satink T, Nijkrake MJ, De Swart BJM, Van Lith BJH, Geurts ACH, Nijhuis-van der Sanden MWG
Disabil Rehabil 2020 Dec;42(26):3744-3751. Epub 2019 May 13 doi: 10.1080/09638288.2019.1610084. PMID: 31079503

Clinical prediction guides

Santos Silva C, Correia Rodrigues C, Fortuna Baptista M, Oliveira Santos M, Gromicho M, Carvalho V, Correia Guedes L, de Carvalho M
Muscle Nerve 2024 Jul;70(1):152-156. Epub 2024 Apr 30 doi: 10.1002/mus.28100. PMID: 38687249
van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799Free PMC Article
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064
Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr
AJNR Am J Neuroradiol 2021 Mar;42(3):610-615. Epub 2021 Jan 21 doi: 10.3174/ajnr.A7017. PMID: 33478946Free PMC Article
Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216

Recent systematic reviews

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D
Hum Mutat 2021 Jun;42(6):762-776. Epub 2021 May 11 doi: 10.1002/humu.24206. PMID: 33847017
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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