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Spastic paraplegia 92, autosomal recessive

MedGen UID:
1053809
Concept ID:
CN378154
Disease or Syndrome
Synonym: spastic paraplegia 92, autosomal recessive
 
Gene (location): FICD (12q23.3)
 
Monarch Initiative: MONDO:0975746
OMIM®: 620911

Definition

Autosomal recessive spastic paraplegia-92 (SPG92) is a slowly progressive neurodegenerative disorder with onset of lower limb spasticity and gait abnormalities in the first (more common) or second decade of life. More variable features include upper limb involvement, tremor, urinary urgency, muscle weakness and atrophy, and mild peripheral neuropathy. Mild cognitive deficits have been reported in some patients (Rebelo et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]

Recent clinical studies

Etiology

Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E
Genet Med 2024 Nov;26(11):101219. Epub 2024 Jul 18 doi: 10.1016/j.gim.2024.101219. PMID: 39033379
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS
J Neurol Sci 2008 Dec 15;275(1-2):92-9. Epub 2008 Oct 2 doi: 10.1016/j.jns.2008.07.038. PMID: 18835492

Diagnosis

Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E
Genet Med 2024 Nov;26(11):101219. Epub 2024 Jul 18 doi: 10.1016/j.gim.2024.101219. PMID: 39033379
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Prognosis

Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E
Genet Med 2024 Nov;26(11):101219. Epub 2024 Jul 18 doi: 10.1016/j.gim.2024.101219. PMID: 39033379
Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS
J Neurol Sci 2008 Dec 15;275(1-2):92-9. Epub 2008 Oct 2 doi: 10.1016/j.jns.2008.07.038. PMID: 18835492

Clinical prediction guides

Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E
Genet Med 2024 Nov;26(11):101219. Epub 2024 Jul 18 doi: 10.1016/j.gim.2024.101219. PMID: 39033379
Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS
J Neurol Sci 2008 Dec 15;275(1-2):92-9. Epub 2008 Oct 2 doi: 10.1016/j.jns.2008.07.038. PMID: 18835492
Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M
Eur J Hum Genet 2006 Feb;14(2):249-52. doi: 10.1038/sj.ejhg.5201537. PMID: 16333315

Recent systematic reviews

Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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