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Hereditary spastic paraplegia 13(SPG13)

MedGen UID:
344289
•Concept ID:
C1854467
•
Disease or Syndrome
Synonyms: Spastic paraplegia 13; SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13
SNOMED CT: Autosomal dominant spastic paraplegia type 13 (783698005)
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)
 
Gene (location): HSPD1 (2q33.1)
 
Monarch Initiative: MONDO:0011532
OMIM®: 605280
Orphanet: ORPHA100994

Definition

A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. [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.
See: Feature record | Search on this feature
Urinary urgency
MedGen UID:
39315
•Concept ID:
C0085606
•
Finding
Urge incontinence is the strong, sudden need to urinate.
See: Feature record | Search on this feature
Urinary bladder sphincter dysfunction
MedGen UID:
334804
•Concept ID:
C1843663
•
Finding
Abnormal function of a sphincter of the urinary bladder.
See: Feature record | Search on this feature
Lower limb muscle weakness
MedGen UID:
324478
•Concept ID:
C1836296
•
Finding
Weakness of the muscles of the legs.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Spastic paraplegia
MedGen UID:
20882
•Concept ID:
C0037772
•
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
See: Feature record | Search on this feature
Hyperreflexia
MedGen UID:
57738
•Concept ID:
C0151889
•
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 13
Follow this link to review classifications for Hereditary spastic paraplegia 13 in Orphanet.

Professional guidelines

PubMed

Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.
Zaghloul A, Manoukian D, Barrett MC, Geronta I, Maizen C
J Pediatr Orthop 2021 Oct 1;41(9):559-565. doi: 10.1097/BPO.0000000000001942. PMID: 34387232
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
Tang YP, Gong JY, Setchell KDR, Zhang W, Zhao J, Wang JS
BMC Gastroenterol 2021 Apr 13;21(1):163. doi: 10.1186/s12876-021-01749-x. PMID: 33849447Free PMC Article
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H
J Neurol 2021 Jun;268(6):2065-2082. Epub 2019 Nov 19 doi: 10.1007/s00415-019-09633-1. PMID: 31745725

Recent clinical studies

Etiology

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.
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
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
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
A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration.
Guglielmi A
Rev Neurosci 2020 May 26;31(4):351-362. doi: 10.1515/revneuro-2019-0083. PMID: 31913854
Hereditary primary lateral sclerosis and progressive nonfluent aphasia.
Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J
J Neurol 2019 May;266(5):1079-1090. Epub 2019 Mar 5 doi: 10.1007/s00415-019-09235-x. PMID: 30834979

Diagnosis

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.
Sainio MT, Aaltio J, Hyttinen V, Kortelainen M, Ojanen S, Paetau A, Tienari P, Ylikallio E, Auranen M, Tyynismaa H
Acta Neurol Scand 2022 Jan;145(1):63-72. Epub 2021 Aug 21 doi: 10.1111/ane.13522. PMID: 34418069
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
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
Hereditary primary lateral sclerosis and progressive nonfluent aphasia.
Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J
J Neurol 2019 May;266(5):1079-1090. Epub 2019 Mar 5 doi: 10.1007/s00415-019-09235-x. PMID: 30834979
Hereditary ataxias and paraparesias: clinical and genetic update.
Parodi L, Coarelli G, Stevanin G, Brice A, Durr A
Curr Opin Neurol 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. PMID: 29847346

Therapy

Gait-Adaptability Training in People With Hereditary Spastic Paraplegia: A Randomized Clinical Trial.
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
Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations.
Servelhere KR, Faber I, Martinez A, Nickel R, Moro A, Germiniani FMB, Moscovich M, Blume TR, Munhoz RP, Teive HAG, França MC Jr
Arq Neuropsiquiatr 2018 Mar;76(3):183-188. doi: 10.1590/0004-282x20180013. PMID: 29809239
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.
Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E
PLoS One 2018;13(3):e0192345. Epub 2018 Mar 8 doi: 10.1371/journal.pone.0192345. PMID: 29518090Free PMC Article
Effect of intrathecal baclofen on sleep and respiratory function in patients with spasticity.
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
Misdiagnoses in children with dopa-responsive dystonia.
Jan MM
Pediatr Neurol 2004 Oct;31(4):298-303. doi: 10.1016/j.pediatrneurol.2004.03.017. PMID: 15464646

Prognosis

Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Global, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.
GBD 2016 Motor Neuron Disease Collaborators
Lancet Neurol 2018 Dec;17(12):1083-1097. Epub 2018 Nov 5 doi: 10.1016/S1474-4422(18)30404-6. PMID: 30409709Free PMC Article
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.
Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E
PLoS One 2018;13(3):e0192345. Epub 2018 Mar 8 doi: 10.1371/journal.pone.0192345. PMID: 29518090Free PMC Article
Misdiagnoses in children with dopa-responsive dystonia.
Jan MM
Pediatr Neurol 2004 Oct;31(4):298-303. doi: 10.1016/j.pediatrneurol.2004.03.017. PMID: 15464646
Ultrasound-guided botulinum toxin injection technique for the iliopsoas muscle.
Westhoff B, Seller K, Wild A, Jaeger M, Krauspe R
Dev Med Child Neurol 2003 Dec;45(12):829-32. doi: 10.1017/s0012162203001531. PMID: 14667075

Clinical prediction guides

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.
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
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.
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
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.
Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E
PLoS One 2018;13(3):e0192345. Epub 2018 Mar 8 doi: 10.1371/journal.pone.0192345. PMID: 29518090Free PMC Article
Effect of intrathecal baclofen on sleep and respiratory function in patients with spasticity.
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

Recent systematic reviews

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.
Giannoccaro MP, Matteo E, Bartiromo F, Tonon C, Santorelli FM, Liguori R, Rizzo G
Neurol Sci 2022 Sep;43(9):5501-5511. Epub 2022 May 21 doi: 10.1007/s10072-022-06145-1. PMID: 35595875
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H
J Neurol 2021 Jun;268(6):2065-2082. Epub 2019 Nov 19 doi: 10.1007/s00415-019-09633-1. PMID: 31745725

Supplemental Content

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    • ClinVar
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    • Gene
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      Clinical tests in GTR
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