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Autosomal dominant spastic paraplegia type 9

MedGen UID:
322007
Concept ID:
C1832669
Disease or Syndrome
Synonyms: Autosomal dominant spastic paraparesis; Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy; Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities; Cataracts, motor neuronopathy, short stature and skeletal abnormalities; Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux; Spastic paraplegia 9, autosomal dominant
 
Monarch Initiative: MONDO:0015091

Definition

Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. [from MONDO]

Recent clinical studies

Etiology

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
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
Wang J, Hou Y, Qi L, Zhai S, Zheng L, Han L, Guo Y, Zhang B, Miao P, Lou Y, Xu X, Wang Y, Ren Y, Cao Z, Feng J
Neurogenetics 2020 Jul;21(3):169-177. Epub 2020 Mar 28 doi: 10.1007/s10048-020-00608-3. PMID: 32222895
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Schlang KJ, Arning L, Epplen JT, Stemmler S
BMC Med Genet 2008 Jul 21;9:71. doi: 10.1186/1471-2350-9-71. PMID: 18644145Free PMC Article

Diagnosis

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
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH
JAMA Neurol 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. PMID: 25751282Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC
JAMA Neurol 2013 Jun;70(6):746-55. doi: 10.1001/jamaneurol.2013.1707. PMID: 23609960

Prognosis

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV
BMC Neurol 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. PMID: 32746806Free PMC Article
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
Polo JM, Calleja J, Combarros O, Berciano J
Brain 1991 Apr;114 ( Pt 2):855-66. doi: 10.1093/brain/114.2.855. PMID: 2043954

Clinical prediction guides

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
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH
JAMA Neurol 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. PMID: 25751282Free PMC Article
Arhzaouy K, Strucksberg KH, Tung SM, Tangavelou K, Stumpf M, Faix J, Schröder R, Clemen CS, Eichinger L
PLoS One 2012;7(10):e46879. Epub 2012 Oct 3 doi: 10.1371/journal.pone.0046879. PMID: 23056506Free PMC Article
Schlang KJ, Arning L, Epplen JT, Stemmler S
BMC Med Genet 2008 Jul 21;9:71. doi: 10.1186/1471-2350-9-71. PMID: 18644145Free PMC Article

Recent systematic reviews

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
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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