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Sensory Neuropathy with Spastic Paraplegia

MedGen UID:
893606
•Concept ID:
CN239462
•
Disease or Syndrome

Professional guidelines

PubMed

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
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S, Logan R, Elson MJ, Luke RR, Verma S
Sci Rep 2020 Sep 30;10(1):16184. doi: 10.1038/s41598-020-73219-5. PMID: 32999401Free PMC Article

Recent clinical studies

Etiology

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.
Liao P, Yuan Y, Liu Z, Hou X, Li W, Wen J, Zhang K, Jiao B, Shen L, Jiang H, Guo J, Tang B, Zhang Z, Hu Z, Wang J
Transl Neurodegener 2022 Oct 26;11(1):46. doi: 10.1186/s40035-022-00320-2. PMID: 36284339Free 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
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I
Dtsch Arztebl Int 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. PMID: 29478438Free PMC Article
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK
Acta Neuropathol 2013 Sep;126(3):307-28. Epub 2013 Jul 30 doi: 10.1007/s00401-013-1115-8. PMID: 23897027Free PMC Article

Diagnosis

Tropical spastic paraparesis.
Román GC
Handb Clin Neurol 2023;196:149-156. doi: 10.1016/B978-0-323-98817-9.00026-0. PMID: 37620067
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.
Panwala TF, Garcia-Santibanez R, Vizcarra JA, Garcia AG, Verma S
Pediatr Neurol 2022 May;130:7-13. Epub 2022 Mar 3 doi: 10.1016/j.pediatrneurol.2022.02.007. PMID: 35303589
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I
Dtsch Arztebl Int 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. PMID: 29478438Free PMC Article
Hereditary neuropathies: An update.
Stojkovic T
Rev Neurol (Paris) 2016 Dec;172(12):775-778. Epub 2016 Nov 17 doi: 10.1016/j.neurol.2016.06.007. PMID: 27866730
Tropical myelopathies.
Román GC
Handb Clin Neurol 2014;121:1521-48. doi: 10.1016/B978-0-7020-4088-7.00102-4. PMID: 24365434

Therapy

Severe Generalized Weakness, Paraplegia following administration of Oxaliplatin in a patient with refractory T-cell non-Hodgkin lymphoma: A case report.
Zarei B, Moeini Nodeh M, Arasteh O
J Oncol Pharm Pract 2022 Jun;28(4):1009-1013. Epub 2022 Jan 10 doi: 10.1177/10781552211073531. PMID: 35006005
Acute Transverse Myelitis (ATM):Clinical Review of 43 Patients With COVID-19-Associated ATM and 3 Post-Vaccination ATM Serious Adverse Events With the ChAdOx1 nCoV-19 Vaccine (AZD1222).
Román GC, Gracia F, Torres A, Palacios A, Gracia K, Harris D
Front Immunol 2021;12:653786. Epub 2021 Apr 26 doi: 10.3389/fimmu.2021.653786. PMID: 33981305Free PMC Article
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G
Trends Mol Med 2021 Jun;27(6):520-523. Epub 2021 Mar 10 doi: 10.1016/j.molmed.2021.02.004. PMID: 33714697Free PMC Article
Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis.
Dodge JC, Treleaven CM, Pacheco J, Cooper S, Bao C, Abraham M, Cromwell M, Sardi SP, Chuang WL, Sidman RL, Cheng SH, Shihabuddin LS
Proc Natl Acad Sci U S A 2015 Jun 30;112(26):8100-5. Epub 2015 Jun 8 doi: 10.1073/pnas.1508767112. PMID: 26056266Free PMC Article
Neuroblastoma with symptomatic epidural compression in the infant: the AIEOP experience.
De Bernardi B, Quaglietta L, Haupt R, Castellano A, Tirtei E, Luksch R, Mastrangelo S, Viscardi E, Indolfi P, Cellini M, Tamburini A, Erminio G, Gandolfo C, Sorrentino S, Vetrella S, Gigliotti AR
Pediatr Blood Cancer 2014 Aug;61(8):1369-75. Epub 2014 Mar 12 doi: 10.1002/pbc.25028. PMID: 24619960

Prognosis

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S
Neurology 2022 Mar 15;98(11):440-445. Epub 2022 Feb 2 doi: 10.1212/WNL.0000000000013276. PMID: 35110381Free 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
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
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
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Sensory neuropathy in hereditary spastic paraplegia.
Schady W, Smith CM
J Neurol Neurosurg Psychiatry 1994 Jun;57(6):693-8. doi: 10.1136/jnnp.57.6.693. PMID: 8006649Free PMC Article

Clinical prediction guides

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S
Neurology 2022 Mar 15;98(11):440-445. Epub 2022 Feb 2 doi: 10.1212/WNL.0000000000013276. PMID: 35110381Free PMC Article
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X, Duan X, Zhang Y, Sun A, Fan D
Eur J Neurol 2020 Jul;27(7):1319-1326. Epub 2020 May 12 doi: 10.1111/ene.14260. PMID: 32298515
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article
Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.
Peddareddygari LR, Hanna PA, Igo RP Jr, Luo YA, Won S, Hirano M, Grewal RP
Int J Neurosci 2016;126(7):600-6. Epub 2015 Aug 17 doi: 10.3109/00207454.2015.1048805. PMID: 26000935

Recent systematic reviews

Acute Transverse Myelitis (ATM):Clinical Review of 43 Patients With COVID-19-Associated ATM and 3 Post-Vaccination ATM Serious Adverse Events With the ChAdOx1 nCoV-19 Vaccine (AZD1222).
Román GC, Gracia F, Torres A, Palacios A, Gracia K, Harris D
Front Immunol 2021;12:653786. Epub 2021 Apr 26 doi: 10.3389/fimmu.2021.653786. PMID: 33981305Free PMC Article
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
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
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

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