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Abnormality of the dorsal column of the spinal cord

MedGen UID:
868962
Concept ID:
C4023376
Anatomical Abnormality
HPO: HP:0011397

Definition

An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. [from HPO]

Term Hierarchy

Conditions with this feature

Friedreich ataxia 2
MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.

Professional guidelines

PubMed

Nardone R, Höller Y, Brigo F, Frey VN, Lochner P, Leis S, Golaszewski S, Trinka E
Spinal Cord 2016 Oct;54(10):756-766. Epub 2016 May 31 doi: 10.1038/sc.2016.82. PMID: 27241448
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD
Cerebellum 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4. PMID: 22915085Free PMC Article

Recent clinical studies

Etiology

Rezende TJR, Schmitt GS, de Lima FD, de Brito MR, Matos PCAAP, Bonadia LC, Martinez ARM, Cendes F, Pedroso JL, Barsottini OGP, Marques W Jr, França MC Jr
Mov Disord 2022 Oct;37(10):2122-2128. Epub 2022 Jul 25 doi: 10.1002/mds.29169. PMID: 35877029
Opsommer E, Korogod N, Stockinger L, Landmann G
Spinal Cord 2021 Aug;59(8):842-854. Epub 2021 Jan 14 doi: 10.1038/s41393-020-00607-z. PMID: 33446934Free PMC Article
Keddie S, Adams A, Kelso ARC, Turner B, Schmierer K, Gnanapavan S, Malaspina A, Giovannoni G, Basnett I, Noyce AJ
J Neurol 2018 May;265(5):1089-1095. Epub 2018 Mar 3 doi: 10.1007/s00415-018-8801-3. PMID: 29502317Free PMC Article
Casseb RF, Martinez AR, de Paiva JL, França MC Jr
J Neuroimaging 2015 Sep-Oct;25(5):704-9. Epub 2015 Feb 10 doi: 10.1111/jon.12210. PMID: 25678358
Fink JK
Neurol Clin 2002 Aug;20(3):711-26. doi: 10.1016/s0733-8619(02)00007-5. PMID: 12432827

Diagnosis

Saul D, Seitz MT, Weiser L, Oberthür S, Roch J, Bremmer F, Perske C, Viezens L, Sehmisch S, Lehmann W
J Neurol Surg A Cent Eur Neurosurg 2020 Jan;81(1):86-90. Epub 2019 Sep 4 doi: 10.1055/s-0039-1693707. PMID: 31486051
Kunam VK, Velayudhan V, Chaudhry ZA, Bobinski M, Smoker WRK, Reede DL
Radiographics 2018 Jul-Aug;38(4):1201-1222. doi: 10.1148/rg.2018170178. PMID: 29995620
Nardone R, Höller Y, Brigo F, Frey VN, Lochner P, Leis S, Golaszewski S, Trinka E
Spinal Cord 2016 Oct;54(10):756-766. Epub 2016 May 31 doi: 10.1038/sc.2016.82. PMID: 27241448
Casseb RF, Martinez AR, de Paiva JL, França MC Jr
J Neuroimaging 2015 Sep-Oct;25(5):704-9. Epub 2015 Feb 10 doi: 10.1111/jon.12210. PMID: 25678358
Fink JK
Neurol Clin 2002 Aug;20(3):711-26. doi: 10.1016/s0733-8619(02)00007-5. PMID: 12432827

Therapy

Alkabie S, Casserly CS, Morrow SA, Racosta JM
J Neurol Sci 2023 Jul 15;450:120677. Epub 2023 May 12 doi: 10.1016/j.jns.2023.120677. PMID: 37207546
Sun W, Li G, Lai Z, Lu Z, Lin Y, Peng J, Huang J, Hu K
World Neurosurg 2019 Aug;128:277-283. Epub 2019 May 10 doi: 10.1016/j.wneu.2019.05.008. PMID: 31082549
Kumar N, Gross JB Jr, Ahlskog JE
Neurology 2004 Jul 13;63(1):33-9. doi: 10.1212/01.wnl.0000132644.52613.fa. PMID: 15249607
Unsinn KM, Geley T, Freund MC, Gassner I
Radiographics 2000 Jul-Aug;20(4):923-38. doi: 10.1148/radiographics.20.4.g00jl06923. PMID: 10903684
Godwin-Austen RB, Howell DA, Worthington B
Brain 1975 Dec;98(4):557-68. doi: 10.1093/brain/98.4.557. PMID: 1218367

Prognosis

Rezende TJR, Adanyeguh IM, Arrigoni F, Bender B, Cendes F, Corben LA, Deistung A, Delatycki M, Dogan I, Egan GF, Göricke SL, Georgiou-Karistianis N, Henry PG, Hutter D, Jahanshad N, Joers JM, Lenglet C, Lindig T, Martinez ARM, Martinuzzi A, Paparella G, Peruzzo D, Reetz K, Romanzetti S, Schöls L, Schulz JB, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Harding IH, França MC Jr
Mov Disord 2023 Jan;38(1):45-56. Epub 2022 Oct 29 doi: 10.1002/mds.29261. PMID: 36308733Free PMC Article
Valošek J, Labounek R, Horák T, Horáková M, Bednařík P, Keřkovský M, Kočica J, Rohan T, Lenglet C, Cohen-Adad J, Hluštík P, Vlčková E, Kadaňka Z Jr, Bednařík J, Svatkova A
Eur J Neurol 2021 Nov;28(11):3784-3797. Epub 2021 Aug 4 doi: 10.1111/ene.15027. PMID: 34288268Free PMC Article
Çavuşoğlu D, Olgaç-Dündar N, Öztekin Ö, Özdemir TR, Arıcan P, Gençpınar P
Turk J Pediatr 2018;60(2):216-220x. doi: 10.24953/turkjped.2018.02.018. PMID: 30325133
Kunam VK, Velayudhan V, Chaudhry ZA, Bobinski M, Smoker WRK, Reede DL
Radiographics 2018 Jul-Aug;38(4):1201-1222. doi: 10.1148/rg.2018170178. PMID: 29995620
Fink JK
Neurol Clin 2002 Aug;20(3):711-26. doi: 10.1016/s0733-8619(02)00007-5. PMID: 12432827

Clinical prediction guides

Hernandez ALCC, Rezende TJR, Martinez ARM, de Brito MR, França MC Jr
Mov Disord 2022 Feb;37(2):354-364. Epub 2021 Oct 29 doi: 10.1002/mds.28841. PMID: 34713932
Ralston HJ 3rd
Prog Brain Res 2005;149:1-10. doi: 10.1016/S0079-6123(05)49001-9. PMID: 16226572
Fink JK
Neurol Clin 2002 Aug;20(3):711-26. doi: 10.1016/s0733-8619(02)00007-5. PMID: 12432827
Ossipov MH, Lai J, Malan TP Jr, Porreca F
Ann N Y Acad Sci 2000;909:12-24. doi: 10.1111/j.1749-6632.2000.tb06673.x. PMID: 10911921
Godwin-Austen RB, Howell DA, Worthington B
Brain 1975 Dec;98(4):557-68. doi: 10.1093/brain/98.4.557. PMID: 1218367

Recent systematic reviews

Chen JW, Zeoli T, Hughes NC, Lane A, Berkman RA
Spine J 2024 Nov;24(11):2026-2034. Epub 2024 Jun 21 doi: 10.1016/j.spinee.2024.06.018. PMID: 38909910

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