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Hereditary spastic paraplegia 41(SPG41)

MedGen UID:
854815
•Concept ID:
C3888208
•
Disease or Syndrome
Synonym: Spastic paraplegia 41, autosomal dominant
SNOMED CT: Autosomal dominant spastic paraplegia type 41 (763069002)
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)
 
Monarch Initiative: MONDO:0013239
OMIM®: 613364
Orphanet: ORPHA320355

Definition

A pure form of hereditary spastic paraplegia with onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [from SNOMEDCT_US]

Clinical features

From HPO
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
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
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
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 41

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
Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.
Kerstens HCJW, Van Lith BJH, Nijkrake MJ, De Swart BJM, Van den Bemd LAC, Smeets RJEM, Klemens F, Van de Warrenburg BPC, Van der Wees PJ, Geurts ACH
Orphanet J Rare Dis 2021 Jun 24;16(1):283. doi: 10.1186/s13023-021-01915-0. PMID: 34167574Free PMC Article

Recent clinical studies

Etiology

Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV
Neurol Sci 2023 Mar;44(3):947-959. Epub 2022 Nov 28 doi: 10.1007/s10072-022-06516-8. PMID: 36441344Free PMC Article
Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z
Parkinsonism Relat Disord 2022 May;98:62-69. Epub 2022 Apr 16 doi: 10.1016/j.parkreldis.2022.03.019. PMID: 35487127
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP
Neurogenetics 2022 Jul;23(3):167-177. Epub 2022 Apr 9 doi: 10.1007/s10048-022-00688-3. PMID: 35397036
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial.
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
Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation.
Fourtassi M, Jacquin-Courtois S, Scheiber-Nogueira MC, Hajjioui A, Luaute J, Charvier K, Maucort-Boulch D, Rode G
Spinal Cord 2012 Jul;50(7):558-62. Epub 2012 Jan 31 doi: 10.1038/sc.2011.193. PMID: 22289900

Diagnosis

Retinal ganglion cell and microvascular density loss in hereditary spastic paraplegia.
Turski GN, Turski CA, Grobe-Einsler M, Kobeleva X, Turski JS, Holz FG, Finger RP, Klockgether T
Restor Neurol Neurosci 2023;41(5-6):229-239. doi: 10.3233/RNN-231380. PMID: 38217556Free PMC Article
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV
Neurol Sci 2023 Mar;44(3):947-959. Epub 2022 Nov 28 doi: 10.1007/s10072-022-06516-8. PMID: 36441344Free PMC Article
Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z
Parkinsonism Relat Disord 2022 May;98:62-69. Epub 2022 Apr 16 doi: 10.1016/j.parkreldis.2022.03.019. PMID: 35487127
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP
Neurogenetics 2022 Jul;23(3):167-177. Epub 2022 Apr 9 doi: 10.1007/s10048-022-00688-3. PMID: 35397036
SPG8 mutations in Italian families: clinical data and literature review.
Ginanneschi F, D'Amore A, Barghigiani M, Tessa A, Rossi A, Santorelli FM
Neurol Sci 2020 Mar;41(3):699-703. Epub 2019 Dec 9 doi: 10.1007/s10072-019-04180-z. PMID: 31814071

Therapy

Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
Lin Q, Liu Y, Ye Z, Hu J, Cai W, Weng Q, Chen WJ, Wang N, Cao D, Lin Y, Fu Y
Orphanet J Rare Dis 2021 Sep 19;16(1):391. doi: 10.1186/s13023-021-02014-w. PMID: 34538260Free PMC Article
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial.
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
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
Hereditary spastic paraplegia, bipolar affective disorder and intellectual disability: a case report.
Whitty M, Kelly F, Ramsay L
J Intellect Disabil 2008 Mar;12(1):41-8. doi: 10.1177/1744629507086607. PMID: 18337300

Prognosis

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L
Hum Mutat 2020 Mar;41(3):632-640. Epub 2019 Nov 25 doi: 10.1002/humu.23950. PMID: 31696996Free PMC Article
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S
BMC Neurol 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. PMID: 31656170Free PMC Article
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
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X, Madireddy L, Caillier S, Santaniello A, Esposito F, Comi G, Stuve O, Zhou Y, Taylor B, Kilpatrick T, Martinelli-Boneschi F, Cree BAC, Oksenberg JR, Hauser SL, Baranzini SE
Ann Neurol 2018 Jul;84(1):51-63. Epub 2018 Jul 3 doi: 10.1002/ana.25263. PMID: 29908077Free PMC Article
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676

Clinical prediction guides

Retinal ganglion cell and microvascular density loss in hereditary spastic paraplegia.
Turski GN, Turski CA, Grobe-Einsler M, Kobeleva X, Turski JS, Holz FG, Finger RP, Klockgether T
Restor Neurol Neurosci 2023;41(5-6):229-239. doi: 10.3233/RNN-231380. PMID: 38217556Free PMC Article
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
Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.
Mori S, Honda H, Hamasaki H, Sasagasako N, Suzuki SO, Furuya H, Taniwaki T, Iwaki T
Neuropathology 2021 Aug;41(4):253-265. Epub 2021 May 24 doi: 10.1111/neup.12733. PMID: 34031922
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
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676

Recent systematic reviews

Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV
Neurol Sci 2023 Mar;44(3):947-959. Epub 2022 Nov 28 doi: 10.1007/s10072-022-06516-8. PMID: 36441344Free PMC Article
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676

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