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Hereditary spastic paraplegia 36(SPG36)

MedGen UID:
422457
Concept ID:
C2936879
Disease or Syndrome
Synonym: Spastic paraplegia 36, autosomal dominant
SNOMED CT: Autosomal dominant spastic paraplegia type 36 (723819007)
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.
 
Monarch Initiative: MONDO:0013132
OMIM®: 613096
Orphanet: ORPHA320365

Definition

A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24. [from SNOMEDCT_US]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
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).
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Weakness of the muscles of the legs.
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.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the 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 spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
A decrease in the ability to perceive vibration in the legs.
Demyelinating motor neuropathy
MedGen UID:
409836
Concept ID:
C1969462
Finding
Demyelination of peripheral motor nerves.
Demyelinating sensory neuropathy
MedGen UID:
868959
Concept ID:
C4023373
Disease or Syndrome
Demyelination of peripheral sensory nerves.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 36
Follow this link to review classifications for Hereditary spastic paraplegia 36 in Orphanet.

Professional guidelines

PubMed

Blair MA, Riddle ME, Wells JF, Breviu BA, Hedera P
Pediatr Neurol 2007 Jun;36(6):382-6. doi: 10.1016/j.pediatrneurol.2007.02.003. PMID: 17560499

Recent clinical studies

Etiology

van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J
Neurorehabil Neural Repair 2023 Jan;37(1):27-36. Epub 2023 Jan 25 doi: 10.1177/15459683221147839. PMID: 36695288Free 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, Rezende TJR, de Lima FD, de Brito MR, de França Nunes RF, Casseb RF, Pedroso JL, Barsottini OGP, Cendes F, França MC Jr
Mov Disord 2021 Jul;36(7):1644-1653. Epub 2021 Feb 11 doi: 10.1002/mds.28519. PMID: 33576112
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article
Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X
Mol Neurodegener 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. PMID: 29980238Free PMC Article

Diagnosis

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
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article
Jiao B, Zhou Z, Hu Z, Du J, Liao X, Luo Y, Wang J, Yan X, Jiang H, Tang B, Shen L
Parkinsonism Relat Disord 2020 Nov;80:65-72. Epub 2020 Sep 14 doi: 10.1016/j.parkreldis.2020.09.013. PMID: 32961396
Burguez D, Polese-Bonatto M, Scudeiro LAJ, Björkhem I, Schöls L, Jardim LB, Matte U, Saraiva-Pereira ML, Siebert M, Saute JAM
J Neurol Sci 2017 Dec 15;383:18-25. Epub 2017 Oct 10 doi: 10.1016/j.jns.2017.10.010. PMID: 29246610
Chinnery PF, Howell N, Andrews RM, Turnbull DM
J Med Genet 1999 Jun;36(6):425-36. PMID: 10874629Free PMC Article

Therapy

van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J
Neurorehabil Neural Repair 2023 Jan;37(1):27-36. Epub 2023 Jan 25 doi: 10.1177/15459683221147839. PMID: 36695288Free PMC Article
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
Diniz de Lima F, Faber I, Servelhere KR, Bittar MFR, Martinez ARM, Piovesana LG, Martins MP, Martins CR Jr, Benaglia T, de Sá Carvalho B, Nucci A, França MC Jr
Mov Disord 2021 Jul;36(7):1654-1663. Epub 2021 Feb 17 doi: 10.1002/mds.28523. PMID: 33595142
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A
Arch Neurol 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. PMID: 22491195
Bensmail D, Quera Salva MA, Roche N, Benyahia S, Bohic M, Denys P, Bussel B, Lofaso F
Neurology 2006 Oct 24;67(8):1432-6. doi: 10.1212/01.wnl.0000239827.38036.23. PMID: 17060570

Prognosis

Vander Stichele G, Durr A, Yoon G, Schüle R, Blackstone C, Esposito G, Buffel C, Oliveira I, Freitag C, van Rooijen S, Hoffmann S, Thielemans L, Cowling BS
BMC Neurol 2022 Mar 24;22(1):115. doi: 10.1186/s12883-022-02595-4. PMID: 35331153Free PMC Article
Du J, Hu YC, Tang BS, Jiang H, Shen L
Int J Neurosci 2018 Feb;128(2):146-150. Epub 2017 Oct 5 doi: 10.1080/00207454.2017.1378878. PMID: 28933964
Orsucci D, Petrucci L, Ienco EC, Chico L, Simi P, Fogli A, Baldinotti F, Simoncini C, LoGerfo A, Carlesi C, Arnoldi A, Bassi MT, Siciliano G, Bonuccelli U, Mancuso M
Clin Neurol Neurosurg 2014 May;120:14-9. Epub 2014 Feb 17 doi: 10.1016/j.clineuro.2014.02.002. PMID: 24731568
Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P
J Neurol Neurosurg Psychiatry 2009 Dec;80(12):1402-4. doi: 10.1136/jnnp.2008.167528. PMID: 19917823
Blair MA, Riddle ME, Wells JF, Breviu BA, Hedera P
Pediatr Neurol 2007 Jun;36(6):382-6. doi: 10.1016/j.pediatrneurol.2007.02.003. PMID: 17560499

Clinical prediction guides

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
Lohkamp LN, Coulter I, Ibrahim GM
Childs Nerv Syst 2020 Jul;36(7):1357-1365. Epub 2020 Apr 16 doi: 10.1007/s00381-020-04601-x. PMID: 32300873
Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X
Mol Neurodegener 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. PMID: 29980238Free PMC Article
Orsucci D, Petrucci L, Ienco EC, Chico L, Simi P, Fogli A, Baldinotti F, Simoncini C, LoGerfo A, Carlesi C, Arnoldi A, Bassi MT, Siciliano G, Bonuccelli U, Mancuso M
Clin Neurol Neurosurg 2014 May;120:14-9. Epub 2014 Feb 17 doi: 10.1016/j.clineuro.2014.02.002. PMID: 24731568
Chandran J, Ding J, Cai H
Mol Neurobiol 2007 Dec;36(3):224-31. Epub 2007 Jul 10 doi: 10.1007/s12035-007-0034-x. PMID: 17955197Free PMC Article

Recent systematic reviews

Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM
J Neurol 2022 Jan;269(1):437-450. Epub 2021 Sep 6 doi: 10.1007/s00415-021-10792-3. PMID: 34487232
Lohkamp LN, Coulter I, Ibrahim GM
Childs Nerv Syst 2020 Jul;36(7):1357-1365. Epub 2020 Apr 16 doi: 10.1007/s00381-020-04601-x. PMID: 32300873

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